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<meta name="keywords" content="C0027697, disease or syndrome, inflammation of kidney, kidney inflammation, nephritides, nephritis, renal inflammation, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The presence of inflammation affecting the kidney." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=14328
ConceptID=C0027697
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Nephritis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14328</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0027697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Nephritides</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Nephritis (52845002)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000123">HP:0000123</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0001166" target="_blank">MONDO:0001166</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">The presence of inflammation affecting the kidney. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Nephritis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868411" ref="tree=MeSH" title="MedGen record for Abnormal inflammatory response">Abnormal inflammatory response</a></span><ul><li><span class="TLline"><a href="/medgen/868409" ref="tree=MeSH" title="MedGen record for Increased inflammatory response">Increased inflammatory response</a></span><ul><li><span class="matched_ds">Nephritis</span><ul><li><span class="TLline"><a href="/medgen/6616" ref="tree=MeSH" title="MedGen record for Glomerulonephritis">Glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/57846" ref="tree=MeSH" title="MedGen record for Acute glomerulonephritis">Acute glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/137959" ref="tree=MeSH" title="MedGen record for Acute diffuse glomerulonephritis">Acute diffuse glomerulonephritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140785" ref="tree=MeSH" title="MedGen record for Acute poststreptococcal glomerulonephritis">Acute poststreptococcal glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/231383" ref="tree=MeSH" title="MedGen record for Anti-basement membrane glomerulonephritis">Anti-basement membrane glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/140788" ref="tree=MeSH" title="MedGen record for Anti-glomerular basement membrane disease">Anti-glomerular basement membrane disease</a></span></li><li><span class="TLline"><a href="/medgen/884569" ref="tree=MeSH" title="MedGen record for C3 glomerulonephritis">C3 glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/1698554" ref="tree=MeSH" title="MedGen record for C3 Glomerulopathy with Monoclonal Gammopathy">C3 Glomerulopathy with Monoclonal Gammopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56293" ref="tree=MeSH" title="MedGen record for Chronic glomerulonephritis">Chronic glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/40300" ref="tree=MeSH" title="MedGen record for Chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis">Chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/57622" ref="tree=MeSH" title="MedGen record for Chronic Glomerulonephritis with Lesion of Proliferative Glomerulonephritis">Chronic Glomerulonephritis with Lesion of Proliferative Glomerulonephritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96040" ref="tree=MeSH" title="MedGen record for Crescentic glomerulonephritis">Crescentic glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/633088" ref="tree=MeSH" title="MedGen record for Cryoglobulinemic glomerulonephritis">Cryoglobulinemic glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/882847" ref="tree=MeSH" title="MedGen record for Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease">Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/163563" ref="tree=MeSH" title="MedGen record for Diffuse glomerulonephritis">Diffuse glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/886532" ref="tree=MeSH" title="MedGen record for Diffuse Endocapillary Glomerulonephritis">Diffuse Endocapillary Glomerulonephritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/154269" ref="tree=MeSH" title="MedGen record for Exudative glomerulonephritis">Exudative glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/473006" ref="tree=MeSH" title="MedGen record for Fibrillary glomerulonephritis">Fibrillary glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/541448" ref="tree=MeSH" title="MedGen record for Focal AND segmental proliferative glomerulonephritis">Focal AND segmental proliferative glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/65950" ref="tree=MeSH" title="MedGen record for Focal embolic glomerulonephritis">Focal embolic glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/4904" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis">Focal segmental glomerulosclerosis</a></span><ul><li><span class="TLline"><a href="/medgen/98337" ref="tree=MeSH" title="MedGen record for Chronic rejection of renal transplant">Chronic rejection of renal transplant</a></span></li><li><span class="TLline"><a href="/medgen/891201" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis Cellular Variant">Focal Segmental Glomerulosclerosis Cellular Variant</a></span></li><li><span class="TLline"><a href="/medgen/889144" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis Collapsing Variant">Focal Segmental Glomerulosclerosis Collapsing Variant</a></span></li><li><span class="TLline"><a href="/medgen/889682" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis Perihilar Variant">Focal Segmental Glomerulosclerosis Perihilar Variant</a></span></li><li><span class="TLline"><a href="/medgen/885369" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis Tip Lesion Variant">Focal Segmental Glomerulosclerosis Tip Lesion Variant</a></span></li><li><span class="TLline"><a href="/medgen/887152" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis, Not Otherwise Specified">Focal Segmental Glomerulosclerosis, Not Otherwise Specified</a></span></li><li><span class="TLline"><a href="/medgen/37145" ref="tree=MeSH" title="MedGen record for HIV-associated nephropathy">HIV-associated nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/1008296" ref="tree=MeSH" title="MedGen record for Inherited focal segmental glomerulosclerosis">Inherited focal segmental glomerulosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/884256" ref="tree=MeSH" title="MedGen record for Obesity Related Glomerulopathy">Obesity Related Glomerulopathy</a></span></li><li><span class="TLline"><a href="/medgen/313617" ref="tree=MeSH" title="MedGen record for Primary focal segmental glomerulosclerosis">Primary focal segmental glomerulosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/354165" ref="tree=MeSH" title="MedGen record for Secondary Focal Segmental Glomerulosclerosis">Secondary Focal Segmental Glomerulosclerosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/885994" ref="tree=MeSH" title="MedGen record for Henoch-Schönlein Purpura Nephritis">Henoch-Schönlein Purpura Nephritis</a></span></li><li><span class="TLline"><a href="/medgen/9032" ref="tree=MeSH" title="MedGen record for IgA glomerulonephritis">IgA glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/753809" ref="tree=MeSH" title="MedGen record for Familial immunoglobulin A nephropathy">Familial immunoglobulin A nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/644711" ref="tree=MeSH" title="MedGen record for IgA nephropathy associated with liver disease">IgA nephropathy associated with liver disease</a></span></li><li><span class="TLline"><a href="/medgen/883203" ref="tree=MeSH" title="MedGen record for IgA Nephropathy, Infection-associated">IgA Nephropathy, Infection-associated</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/889797" ref="tree=MeSH" title="MedGen record for IgM - Associated Nephropathy">IgM - Associated Nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/148168" ref="tree=MeSH" title="MedGen record for Immune-complex glomerulonephritis">Immune-complex glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/1684714" ref="tree=MeSH" title="MedGen record for Immunotactoid glomerulopathy">Immunotactoid glomerulopathy</a></span></li><li><span class="TLline"><a href="/medgen/10307" ref="tree=MeSH" title="MedGen record for Lipoid nephrosis">Lipoid nephrosis</a></span></li><li><span class="TLline"><a href="/medgen/6147" ref="tree=MeSH" title="MedGen record for Lupus nephritis">Lupus nephritis</a></span><ul><li><span class="TLline"><a href="/medgen/885820" ref="tree=MeSH" title="MedGen record for Advanced sclerotic lupus nephritis">Advanced sclerotic lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/883248" ref="tree=MeSH" title="MedGen record for Diffuse lupus nephritis">Diffuse lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/891112" ref="tree=MeSH" title="MedGen record for Focal lupus nephritis">Focal lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/884707" ref="tree=MeSH" title="MedGen record for Membranous lupus nephritis">Membranous lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/882510" ref="tree=MeSH" title="MedGen record for Mesangial proliferative lupus nephritis">Mesangial proliferative lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/888809" ref="tree=MeSH" title="MedGen record for Minimal mesangial lupus nephritis">Minimal mesangial lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/890480" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class IV G">Systemic Lupus Erythematosus Nephritis Class IV G</a></span></li><li><span class="TLline"><a href="/medgen/882190" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class IV S">Systemic Lupus Erythematosus Nephritis Class IV S</a></span></li><li><span class="TLline"><a href="/medgen/887958" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class V">Systemic Lupus Erythematosus Nephritis Class V</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42231" ref="tree=MeSH" title="MedGen record for Membranous nephropathy">Membranous nephropathy</a></span><ul><li><span class="TLline"><a href="/medgen/39226" ref="tree=MeSH" title="MedGen record for Idiopathic membranous glomerulonephritis">Idiopathic membranous glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/888223" ref="tree=MeSH" title="MedGen record for Infection-associated membranous nephropathy">Infection-associated membranous nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/888874" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - Autoimmune Disorder Associated">Membranous Nephropathy - Autoimmune Disorder Associated</a></span></li><li><span class="TLline"><a href="/medgen/884516" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - Drug Associated">Membranous Nephropathy - Drug Associated</a></span></li><li><span class="TLline"><a href="/medgen/890400" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - Malignancy Associated">Membranous Nephropathy - Malignancy Associated</a></span></li><li><span class="TLline"><a href="/medgen/881683" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - NEP Induced">Membranous Nephropathy - NEP Induced</a></span></li><li><span class="TLline"><a href="/medgen/882712" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - PLA2R Induced">Membranous Nephropathy - PLA2R Induced</a></span></li><li><span class="TLline"><a href="/medgen/926295" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - Secondary">Membranous Nephropathy - Secondary</a></span></li><li><span class="TLline"><a href="/medgen/883620" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - THSD7A Induced">Membranous Nephropathy - THSD7A Induced</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66364" ref="tree=MeSH" title="MedGen record for Mesangial proliferative glomerulonephritis">Mesangial proliferative glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/9033" ref="tree=MeSH" title="MedGen record for Mesangiocapillary glomerulonephritis">Mesangiocapillary glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/886443" ref="tree=MeSH" title="MedGen record for Membranoproliferative Glomerulonephritis Type 3 (AQ)">Membranoproliferative Glomerulonephritis Type 3 (AQ)</a></span></li><li><span class="TLline"><a href="/medgen/82828" ref="tree=MeSH" title="MedGen record for Mesangiocapillary glomerulonephritis, type I">Mesangiocapillary glomerulonephritis, type I</a></span></li><li><span class="TLline"><a href="/medgen/124345" ref="tree=MeSH" title="MedGen record for Mesangiocapillary glomerulonephritis, type II">Mesangiocapillary glomerulonephritis, type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/890175" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis - ANCA Negative">Pauci-Immune Glomerulonephritis - ANCA Negative</a></span></li><li><span class="TLline"><a href="/medgen/886335" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis - Renal Limited">Pauci-Immune Glomerulonephritis - Renal Limited</a></span></li><li><span class="TLline"><a href="/medgen/881382" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis">Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/887463" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis">Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/889022" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis">Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/68617" ref="tree=MeSH" title="MedGen record for Proliferative glomerulonephritis">Proliferative glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/1700425" ref="tree=MeSH" title="MedGen record for Proliferative Glomerulonephritis with Monoclonal IgG Deposits">Proliferative Glomerulonephritis with Monoclonal IgG Deposits</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/113155" ref="tree=MeSH" title="MedGen record for Rapidly progressive glomerulonephritis">Rapidly progressive glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/266070" ref="tree=MeSH" title="MedGen record for Subacute glomerulonephritis">Subacute glomerulonephritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10305" ref="tree=MeSH" title="MedGen record for Hereditary nephritis">Hereditary nephritis</a></span></li><li><span class="TLline"><a href="/medgen/10656" ref="tree=MeSH" title="MedGen record for Perinephritis">Perinephritis</a></span></li><li><span class="TLline"><a href="/medgen/48268" ref="tree=MeSH" title="MedGen record for Pyelitis">Pyelitis</a></span><ul><li><span class="TLline"><a href="/medgen/18778" ref="tree=MeSH" title="MedGen record for Pyelocystitis">Pyelocystitis</a></span></li><li><span class="TLline"><a href="/medgen/19590" ref="tree=MeSH" title="MedGen record for Pyelonephritis">Pyelonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/636072" ref="tree=MeSH" title="MedGen record for Acute pyelonephritis">Acute pyelonephritis</a></span></li><li><span class="TLline"><a href="/medgen/39090" ref="tree=MeSH" title="MedGen record for Chronic pyelonephritis">Chronic pyelonephritis</a></span></li><li><span class="TLline"><a href="/medgen/777013" ref="tree=MeSH" title="MedGen record for Recurrent pyelonephritis">Recurrent pyelonephritis</a></span></li><li><span class="TLline"><a href="/medgen/19591" ref="tree=MeSH" title="MedGen record for Xanthogranulomatous pyelonephritis">Xanthogranulomatous pyelonephritis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_6146"><div><strong>Systemic lupus erythematosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6146</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0024141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).&#13; Genetic Heterogeneity of Systemic Lupus Erythematosus&#13; An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22.&#13; See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6146">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78675"><div><strong>Alstrom syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78675</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0268425</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ &lt;70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78675">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98012"><div><strong>Progressive hereditary glomerulonephritis without deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98012</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0403443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98012">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_323004"><div><strong>Epidermolysis bullosa simplex 7, with nephropathy and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323004</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1836823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/323004">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_326819"><div><strong>Torticollis-keloids-cryptorchidism-renal dysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326819</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1839129</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326819">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333882"><div><strong>Heme oxygenase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333882</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1841651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder with a complex clinical presentation including direct antibody negative hemolytic anemia, low bilirubin, and hyperinflammation (summary by Chau et al., 2020). Other features may include asplenia and nephritis (Radhakrishnan et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333882">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341311"><div><strong>Thyrocerebrorenal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341311</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341311">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349065"><div><strong>Autoimmune lymphoproliferative syndrome type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349065</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1858968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349065">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_369859"><div><strong>Plasminogen deficiency, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369859</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1968804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006).&#13; Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/369859">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461624"><div><strong>Complement component C1r/C1s deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461624</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3150274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461624">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462728"><div><strong>IgA nephropathy, susceptibility to, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462728</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151378</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462728">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463619"><div><strong>IgA nephropathy, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463619</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3160719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463619">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934594"><div><strong>Mucopolysaccharidosis-plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934594</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310627</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934594">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1645893"><div><strong>Familial juvenile hyperuricemic nephropathy type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645893</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the third and seventh decades. Hyperuricemia is often present from an early age, and gout (resulting from reduced kidney excretion of uric acid) occurs in the teenage years in about 8% of affected individuals and develops in 55% of affected individuals over time.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1645893">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648057"><div><strong>Asphyxiating thoracic dystrophy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648057</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551856</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).&#13; There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).&#13; Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia&#13; SRTD1 has been mapped to chromosome 15q13. See also SRTD2 (611263), caused by mutation in the IFT80 gene (611177); SRTD3 (613091), caused by mutation in the DYNC2H1 gene (603297); SRTD4 (613819), caused by mutation in the TTC21B gene (612014); SRTD5 (614376), caused by mutation in the WDR19 gene (608151); SRTD6 (263520), caused by mutation in the NEK1 gene (604588); SRTD7 (614091), caused by mutation in the WDR35 gene (613602); SRTD8 (615503), caused by mutation in the WDR60 gene (615462); SRTD9 (266920), caused by mutation in the IFT140 gene (614620); SRTD10 (615630), caused by mutation in the IFT172 gene (607386); SRTD11 (615633), caused by mutation in the WDR34 gene (613363); SRTD13 (616300), caused by mutation in the CEP120 gene (613446); SRTD14 (616546), caused by mutation in the KIAA0586 gene (610178); SRTD15 (617088), caused by mutation in the DYNC2LI1 gene (617083); SRTD16 (617102), caused by mutation in the IFT52 gene (617094); SRTD17 (617405), caused by mutation in the TCTEX1D2 gene (617353); SRTD18 (617866), caused by mutation in the IFT43 gene (614068); SRTD19 (617895), caused by mutation in the IFT81 gene (605489); SRTD20 (617925), caused by mutation in the INTU gene (610621); and SRTD21 (619479), caused by mutation in the KIAA0753 gene (617112).&#13; See also SRTD12 (Beemer-Langer syndrome; 269860).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648057">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648334"><div><strong>Autosomal recessive Alport syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648334</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4746745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648334">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648433"><div><strong>X-linked Alport syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648433</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4746986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648433">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1848787"><div><strong>Autosomal dominant Alport syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848787</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5882663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1848787">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78675" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alstrom syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asphyxiating thoracic dystrophy 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune lymphoproliferative syndrome type 2A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant Alport syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Alport syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component C1r/C1s deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 7, with nephropathy and deafness</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial juvenile hyperuricemic nephropathy type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heme oxygenase 1 deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">IgA nephropathy, susceptibility to, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">IgA nephropathy, susceptibility to, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis-plus syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plasminogen deficiency, type I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive hereditary glomerulonephritis without deafness</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systemic lupus erythematosus</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyrocerebrorenal syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326819" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torticollis-keloids-cryptorchidism-renal dysplasia syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked Alport syndrome</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37827694">EULAR recommendations for the management of systemic lupus erythematosus: 2023 update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fanouriakis A,
Kostopoulou M,
Andersen J,
Aringer M,
Arnaud L,
Bae SC,
Boletis J,
Bruce IN,
Cervera R,
Doria A,
Dörner T,
Furie RA,
Gladman DD,
Houssiau FA,
Inês LS,
Jayne D,
Kouloumas M,
Kovács L,
Mok CC,
Morand EF,
Moroni G,
Mosca M,
Mucke J,
Mukhtyar CB,
Nagy G,
Navarra S,
Parodis I,
Pego-Reigosa JM,
Petri M,
Pons-Estel BA,
Schneider M,
Smolen JS,
Svenungsson E,
Tanaka Y,
Tektonidou MG,
Teng YO,
Tincani A,
Vital EM,
van Vollenhoven RF,
Wincup C,
Bertsias G,
Boumpas DT</span><br />
<span class="medgenPMjournal">Ann Rheum Dis</span>
2024 Jan 2;83(1):15-29.
doi: 10.1136/ard-2023-224762.
<span class="bold">PMID: </span><a href="/pubmed/37827694" target="_blank">37827694</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37861061">Updated ACVIM consensus statement on leptospirosis in dogs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sykes JE,
Francey T,
Schuller S,
Stoddard RA,
Cowgill LD,
Moore GE</span><br />
<span class="medgenPMjournal">J Vet Intern Med</span>
2023 Nov-Dec;37(6):1966-1982.
Epub 2023 Oct 20
doi: 10.1111/jvim.16903.
<span class="bold">PMID: </span><a href="/pubmed/37861061" target="_blank">37861061</a><a href="/pmc/articles/PMC10658540" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33051219">Update οn the diagnosis and management of systemic lupus erythematosus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fanouriakis A,
Tziolos N,
Bertsias G,
Boumpas DT</span><br />
<span class="medgenPMjournal">Ann Rheum Dis</span>
2021 Jan;80(1):14-25.
Epub 2020 Oct 13
doi: 10.1136/annrheumdis-2020-218272.
<span class="bold">PMID: </span><a href="/pubmed/33051219" target="_blank">33051219</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22nephritis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (966)</a></div></div>
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<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
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<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/35534373">Acute kidney injury associated with non-steroidal anti-inflammatory drugs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klomjit N,
Ungprasert P</span><br />
<span class="medgenPMjournal">Eur J Intern Med</span>
2022 Jul;101:21-28.
Epub 2022 May 6
doi: 10.1016/j.ejim.2022.05.003.
<span class="bold">PMID: </span><a href="/pubmed/35534373" target="_blank">35534373</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35273009">Drug-Induced Acute Kidney Injury.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Perazella MA,
Rosner MH</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2022 Aug;17(8):1220-1233.
Epub 2022 Mar 10
doi: 10.2215/CJN.11290821.
<span class="bold">PMID: </span><a href="/pubmed/35273009" target="_blank">35273009</a><a href="/pmc/articles/PMC9435983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34972976">Renal Toxicity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdelrahim M,
Abudayyeh A</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
2021;1342:389-397.
doi: 10.1007/978-3-030-79308-1_16.
<span class="bold">PMID: </span><a href="/pubmed/34972976" target="_blank">34972976</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27821390">Update on Lupus Nephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Almaani S,
Meara A,
Rovin BH</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2017 May 8;12(5):825-835.
Epub 2016 Nov 7
doi: 10.2215/CJN.05780616.
<span class="bold">PMID: </span><a href="/pubmed/27821390" target="_blank">27821390</a><a href="/pmc/articles/PMC5477208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26568188">Renal involvement in primary Sjögren syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">François H,
Mariette X</span><br />
<span class="medgenPMjournal">Nat Rev Nephrol</span>
2016 Feb;12(2):82-93.
Epub 2015 Nov 16
doi: 10.1038/nrneph.2015.174.
<span class="bold">PMID: </span><a href="/pubmed/26568188" target="_blank">26568188</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephritis%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7757)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33280015">Lupus nephritis: clinical presentations and outcomes in the 21st century.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gasparotto M,
Gatto M,
Binda V,
Doria A,
Moroni G</span><br />
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
2020 Dec 5;59(Suppl5):v39-v51.
doi: 10.1093/rheumatology/keaa381.
<span class="bold">PMID: </span><a href="/pubmed/33280015" target="_blank">33280015</a><a href="/pmc/articles/PMC7751166" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30454737">Tubulointerstitial Nephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ruebner RL,
Fadrowski JJ</span><br />
<span class="medgenPMjournal">Pediatr Clin North Am</span>
2019 Feb;66(1):111-119.
doi: 10.1016/j.pcl.2018.08.009.
<span class="bold">PMID: </span><a href="/pubmed/30454737" target="_blank">30454737</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28711073">Lupus Nephritis and Pregnancy: Concerns and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lightstone L,
Hladunewich MA</span><br />
<span class="medgenPMjournal">Semin Nephrol</span>
2017 Jul;37(4):347-353.
doi: 10.1016/j.semnephrol.2017.05.006.
<span class="bold">PMID: </span><a href="/pubmed/28711073" target="_blank">28711073</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28284385">IgG4-Related Tubulointerstitial Nephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang P,
Cornell LD</span><br />
<span class="medgenPMjournal">Adv Chronic Kidney Dis</span>
2017 Mar;24(2):94-100.
doi: 10.1053/j.ackd.2016.12.001.
<span class="bold">PMID: </span><a href="/pubmed/28284385" target="_blank">28284385</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27155873">Tubulointerstitial nephritis: diagnosis, treatment, and monitoring.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Joyce E,
Glasner P,
Ranganathan S,
Swiatecka-Urban A</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2017 Apr;32(4):577-587.
Epub 2016 May 7
doi: 10.1007/s00467-016-3394-5.
<span class="bold">PMID: </span><a href="/pubmed/27155873" target="_blank">27155873</a><a href="/pmc/articles/PMC5099107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephritis%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8425)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38372756">Immune-related serious adverse events with immune checkpoint inhibitors: Systematic review and network meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira C,
Mainoli B,
Duarte GS,
Machado T,
Tinoco RG,
Esperança-Martins M,
Ferreira JJ,
Costa J</span><br />
<span class="medgenPMjournal">Eur J Clin Pharmacol</span>
2024 May;80(5):677-684.
Epub 2024 Feb 19
doi: 10.1007/s00228-024-03647-z.
<span class="bold">PMID: </span><a href="/pubmed/38372756" target="_blank">38372756</a><a href="/pmc/articles/PMC11001692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32937045">Two-Year, Randomized, Controlled Trial of Belimumab in Lupus Nephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Furie R,
Rovin BH,
Houssiau F,
Malvar A,
Teng YKO,
Contreras G,
Amoura Z,
Yu X,
Mok CC,
Santiago MB,
Saxena A,
Green Y,
Ji B,
Kleoudis C,
Burriss SW,
Barnett C,
Roth DA</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2020 Sep 17;383(12):1117-1128.
doi: 10.1056/NEJMoa2001180.
<span class="bold">PMID: </span><a href="/pubmed/32937045" target="_blank">32937045</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23684423">The BAFF/APRIL system: emerging functions beyond B cell biology and autoimmunity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vincent FB,
Saulep-Easton D,
Figgett WA,
Fairfax KA,
Mackay F</span><br />
<span class="medgenPMjournal">Cytokine Growth Factor Rev</span>
2013 Jun;24(3):203-15.
Epub 2013 May 15
doi: 10.1016/j.cytogfr.2013.04.003.
<span class="bold">PMID: </span><a href="/pubmed/23684423" target="_blank">23684423</a><a href="/pmc/articles/PMC7108297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22231479">Efficacy and safety of rituximab in patients with active proliferative lupus nephritis: the Lupus Nephritis Assessment with Rituximab study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rovin BH,
Furie R,
Latinis K,
Looney RJ,
Fervenza FC,
Sanchez-Guerrero J,
Maciuca R,
Zhang D,
Garg JP,
Brunetta P,
Appel G;
LUNAR Investigator Group</span><br />
<span class="medgenPMjournal">Arthritis Rheum</span>
2012 Apr;64(4):1215-26.
Epub 2012 Jan 9
doi: 10.1002/art.34359.
<span class="bold">PMID: </span><a href="/pubmed/22231479" target="_blank">22231479</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12209517">Immunosuppressive therapy in lupus nephritis: the Euro-Lupus Nephritis Trial, a randomized trial of low-dose versus high-dose intravenous cyclophosphamide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Houssiau FA,
Vasconcelos C,
D'Cruz D,
Sebastiani GD,
Garrido Ed Ede R,
Danieli MG,
Abramovicz D,
Blockmans D,
Mathieu A,
Direskeneli H,
Galeazzi M,
Gül A,
Levy Y,
Petera P,
Popovic R,
Petrovic R,
Sinico RA,
Cattaneo R,
Font J,
Depresseux G,
Cosyns JP,
Cervera R</span><br />
<span class="medgenPMjournal">Arthritis Rheum</span>
2002 Aug;46(8):2121-31.
doi: 10.1002/art.10461.
<span class="bold">PMID: </span><a href="/pubmed/12209517" target="_blank">12209517</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephritis%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7306)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32611588">Recommended physical activity and all cause and cause specific mortality in US adults: prospective cohort study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao M,
Veeranki SP,
Magnussen CG,
Xi B</span><br />
<span class="medgenPMjournal">BMJ</span>
2020 Jul 1;370:m2031.
doi: 10.1136/bmj.m2031.
<span class="bold">PMID: </span><a href="/pubmed/32611588" target="_blank">32611588</a><a href="/pmc/articles/PMC7328465" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32571142">Systemic lupus erythematosus, lupus nephritis and end-stage renal disease: a pragmatic review mapping disease severity and progression.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mahajan A,
Amelio J,
Gairy K,
Kaur G,
Levy RA,
Roth D,
Bass D</span><br />
<span class="medgenPMjournal">Lupus</span>
2020 Aug;29(9):1011-1020.
Epub 2020 Jun 22
doi: 10.1177/0961203320932219.
<span class="bold">PMID: </span><a href="/pubmed/32571142" target="_blank">32571142</a><a href="/pmc/articles/PMC7425376" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30338717">Mortality in systemic lupus erythematosus: causes, predictors and interventions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ocampo-Piraquive V,
Nieto-Aristizábal I,
Cañas CA,
Tobón GJ</span><br />
<span class="medgenPMjournal">Expert Rev Clin Immunol</span>
2018 Dec;14(12):1043-1053.
Epub 2018 Oct 24
doi: 10.1080/1744666X.2018.1538789.
<span class="bold">PMID: </span><a href="/pubmed/30338717" target="_blank">30338717</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15847359">NSAIDs and kidney.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ejaz P,
Bhojani K,
Joshi VR</span><br />
<span class="medgenPMjournal">J Assoc Physicians India</span>
2004 Aug;52:632-40.
<span class="bold">PMID: </span><a href="/pubmed/15847359" target="_blank">15847359</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10215343">Lupus nephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cameron JS</span><br />
<span class="medgenPMjournal">J Am Soc Nephrol</span>
1999 Feb;10(2):413-24.
doi: 10.1681/ASN.V102413.
<span class="bold">PMID: </span><a href="/pubmed/10215343" target="_blank">10215343</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephritis%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5743)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/29551517">Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE,
Ding J,
Garosi G,
Heidet L,
Massella L,
Nakanishi K,
Nozu K,
Renieri A,
Rheault M,
Wang F,
Gross O</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2018 May;93(5):1045-1051.
Epub 2018 Mar 16
doi: 10.1016/j.kint.2017.12.018.
<span class="bold">PMID: </span><a href="/pubmed/29551517" target="_blank">29551517</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29459092">Revision of the International Society of Nephrology/Renal Pathology Society classification for lupus nephritis: clarification of definitions, and modified National Institutes of Health activity and chronicity indices.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bajema IM,
Wilhelmus S,
Alpers CE,
Bruijn JA,
Colvin RB,
Cook HT,
D'Agati VD,
Ferrario F,
Haas M,
Jennette JC,
Joh K,
Nast CC,
Noël LH,
Rijnink EC,
Roberts ISD,
Seshan SV,
Sethi S,
Fogo AB</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2018 Apr;93(4):789-796.
Epub 2018 Feb 16
doi: 10.1016/j.kint.2017.11.023.
<span class="bold">PMID: </span><a href="/pubmed/29459092" target="_blank">29459092</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28515156">Anti-Glomerular Basement Membrane Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McAdoo SP,
Pusey CD</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2017 Jul 7;12(7):1162-1172.
Epub 2017 May 17
doi: 10.2215/CJN.01380217.
<span class="bold">PMID: </span><a href="/pubmed/28515156" target="_blank">28515156</a><a href="/pmc/articles/PMC5498345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27821390">Update on Lupus Nephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Almaani S,
Meara A,
Rovin BH</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2017 May 8;12(5):825-835.
Epub 2016 Nov 7
doi: 10.2215/CJN.05780616.
<span class="bold">PMID: </span><a href="/pubmed/27821390" target="_blank">27821390</a><a href="/pmc/articles/PMC5477208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20336051">Acute interstitial nephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Praga M,
González E</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2010 Jun;77(11):956-61.
Epub 2010 Mar 24
doi: 10.1038/ki.2010.89.
<span class="bold">PMID: </span><a href="/pubmed/20336051" target="_blank">20336051</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephritis%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5575)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38372756">Immune-related serious adverse events with immune checkpoint inhibitors: Systematic review and network meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira C,
Mainoli B,
Duarte GS,
Machado T,
Tinoco RG,
Esperança-Martins M,
Ferreira JJ,
Costa J</span><br />
<span class="medgenPMjournal">Eur J Clin Pharmacol</span>
2024 May;80(5):677-684.
Epub 2024 Feb 19
doi: 10.1007/s00228-024-03647-z.
<span class="bold">PMID: </span><a href="/pubmed/38372756" target="_blank">38372756</a><a href="/pmc/articles/PMC11001692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36805219">Natural Language Processing in Electronic Health Records in relation to healthcare decision-making: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hossain E,
Rana R,
Higgins N,
Soar J,
Barua PD,
Pisani AR,
Turner K</span><br />
<span class="medgenPMjournal">Comput Biol Med</span>
2023 Mar;155:106649.
Epub 2023 Feb 10
doi: 10.1016/j.compbiomed.2023.106649.
<span class="bold">PMID: </span><a href="/pubmed/36805219" target="_blank">36805219</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26815601">Risk of End-Stage Renal Disease in Patients With Lupus Nephritis, 1971-2015: A Systematic Review and Bayesian Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tektonidou MG,
Dasgupta A,
Ward MM</span><br />
<span class="medgenPMjournal">Arthritis Rheumatol</span>
2016 Jun;68(6):1432-41.
doi: 10.1002/art.39594.
<span class="bold">PMID: </span><a href="/pubmed/26815601" target="_blank">26815601</a><a href="/pmc/articles/PMC5071782" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25778500">Diagnosis, Monitoring, and Treatment of Systemic Lupus Erythematosus: A Systematic Review of Clinical Practice Guidelines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tunnicliffe DJ,
Singh-Grewal D,
Kim S,
Craig JC,
Tong A</span><br />
<span class="medgenPMjournal">Arthritis Care Res (Hoboken)</span>
2015 Oct;67(10):1440-52.
doi: 10.1002/acr.22591.
<span class="bold">PMID: </span><a href="/pubmed/25778500" target="_blank">25778500</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20688887">A systematic review and meta-analysis of pregnancy outcomes in patients with systemic lupus erythematosus and lupus nephritis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Smyth A,
Oliveira GH,
Lahr BD,
Bailey KR,
Norby SM,
Garovic VD</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2010 Nov;5(11):2060-8.
Epub 2010 Aug 5
doi: 10.2215/CJN.00240110.
<span class="bold">PMID: </span><a href="/pubmed/20688887" target="_blank">20688887</a><a href="/pmc/articles/PMC3001786" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephritis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (207)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Nephritis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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