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<!--
UID=61248
ConceptID=C0178664
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glomerular sclerosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61248</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.">C0178664</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>Glomerulosclerosis</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Glomerulosclerosis (82646005); Glomerulosclerosis (197661001)</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:0000096">HP:0000096</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0000490" target="_blank">MONDO:0000490</a></td></tr>
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<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">Accumulation of scar tissue within the glomerulus. [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="TLline">Glomerular sclerosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/869219" ref="tree=MeSH" title="MedGen record for Abnormality of the upper urinary tract">Abnormality of the upper urinary tract</a></span><ul><li><span class="TLline"><a href="/medgen/78593" ref="tree=MeSH" title="MedGen record for Abnormality of the kidney">Abnormality of the kidney</a></span><ul><li><span class="TLline"><a href="/medgen/1633142" ref="tree=MeSH" title="MedGen record for Abnormal renal morphology">Abnormal renal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868444" ref="tree=MeSH" title="MedGen record for Abnormal nephron morphology">Abnormal nephron morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1623650" ref="tree=MeSH" title="MedGen record for Abnormal renal corpuscle morphology">Abnormal renal corpuscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871392" ref="tree=MeSH" title="MedGen record for Abnormal renal glomerulus morphology">Abnormal renal glomerulus morphology</a></span><ul><li><span class="matched_ds">Glomerular sclerosis</span><ul><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><ul><li><span class="TLline"><a href="/medgen/1636833" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 1">Focal segmental glomerulosclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/349053" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 2">Focal segmental glomerulosclerosis 2</a></span></li><li><span class="TLline"><a href="/medgen/413315" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 5">Focal segmental glomerulosclerosis 5</a></span></li><li><span class="TLline"><a href="/medgen/481535" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 6">Focal segmental glomerulosclerosis 6</a></span></li><li><span class="TLline"><a href="/medgen/863362" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 7">Focal segmental glomerulosclerosis 7</a></span></li><li><span class="TLline"><a href="/medgen/863430" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 8">Focal segmental glomerulosclerosis 8</a></span></li><li><span class="TLline"><a href="/medgen/863992" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 9">Focal segmental glomerulosclerosis 9</a></span></li><li><span class="TLline"><a href="/medgen/335850" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 3, susceptibility to">Focal segmental glomerulosclerosis 3, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/390820" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 4, susceptibility to">Focal segmental glomerulosclerosis 4, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/140789" ref="tree=MeSH" title="MedGen record for Nail-patella-like renal disease">Nail-patella-like renal disease</a></span></li></ul></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/355432" ref="tree=MeSH" title="MedGen record for Global glomerulosclerosis">Global glomerulosclerosis</a></span><ul><li><span class="TLline"><a href="/medgen/1782435" ref="tree=MeSH" title="MedGen record for Glomerular obsolescence">Glomerular obsolescence</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83080" ref="tree=MeSH" title="MedGen record for Segmental glomerulosclerosis">Segmental glomerulosclerosis</a></span><ul><li><span class="TLline"><a href="/medgen/1781755" ref="tree=MeSH" title="MedGen record for Perihilar segmental glomerulosclerosis">Perihilar segmental glomerulosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/1783557" ref="tree=MeSH" title="MedGen record for Segmental glomerulosclerosis away from the vascular and tubular poles">Segmental glomerulosclerosis away from the vascular and tubular poles</a></span></li><li><span class="TLline"><a href="/medgen/1779765" ref="tree=MeSH" title="MedGen record for Tip variant segmental glomerulosclerosis">Tip variant segmental glomerulosclerosis</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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_41678"><div><strong>Familial dysautonomia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41678</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:">C0013364</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41678">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75688"><div><strong>Tyrosinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75688</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.">C0268490</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75688">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98011"><div><strong>Finnish congenital nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98011</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.">C0403399</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996).&#13; Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure (Kestila et al., 1998).&#13; Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.&#13; Genetic Heterogeneity of Nephrotic Syndrome and Focal Segmental Glomerulosclerosis&#13; Nephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); NPHS4 (256370), caused by mutation in the WT1 gene (607102); NPHS5 (614199), caused by mutation in the LAMB2 gene (150325); NPHS6 (614196), caused by mutation in the PTPRO gene (600579); NPHS7 (615008), caused by mutation in the DGKE gene (601440); NPHS8 (615244), caused by mutation in the ARHGDIA gene (601925); NPHS9 (615573), caused by mutation in the COQ8B gene (615567); NPHS10 (615861), caused by mutation in the EMP2 gene (602334); NPHS11 (616730), caused by mutation in the NUP107 gene (607617); NPHS12 (616892), caused by mutation in the NUP93 gene (614351); NPHS13 (616893), caused by mutation in the NUP205 gene (614352); NPHS14 (617575), caused by mutation in the SGPL1 gene (603729); NPHS15 (617609), caused by mutation in the MAGI2 gene (606382); NPHS16 (617783), caused by mutation in the KANK2 gene (614610), NPHS17 (618176), caused by mutation in the NUP85 gene (170285); NPHS18 (618177), caused by mutation in the NUP133 gene (607613); NPHS19 (618178), caused by mutation in the NUP160 gene (607614); NPHS20 (301028), caused by mutation in the TBC1D8B gene (301027); NPHS21 (618594) caused by mutation in the AVIL gene (613397); NPHS22 (619155), caused by mutation in the NOS1AP gene (605551); NPHS23 (619201), caused by mutation in the KIRREL1 gene (607428); NPHS24 (619263), caused by mutation in the DAAM2 gene (606627); and NPHS26 (620049), caused by mutation in the LAMA5 gene (601033).&#13; The symbol NPHS25 has been used as an alternative designation for NPHS21.&#13; See also FSGS1 (603278), caused by mutation in the ACTN4 gene (604638); FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); and FSGS9 (616220), caused by mutation in the CRB2 gene (609720).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98011">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_96047"><div><strong>X-linked recessive nephrolithiasis with renal failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96047</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.">C0403720</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96047">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340516"><div><strong>Oculorenocerebellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340516</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.">C1850331</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340516">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_358137"><div><strong>Tubulointerstitial kidney disease, autosomal dominant, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358137</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.">C1868139</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 MUC1 (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. The rate of loss of kidney function for individuals is variable within and between families, with a median age of onset of end-stage renal disease (ESRD) of 46 years (range: ages 20-70 years). There are no other systemic manifestations.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/358137">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482242"><div><strong>Nephronophthisis 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482242</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.">C3280612</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482242">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_764868"><div><strong>Coenzyme Q10 deficiency, primary, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764868</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.">C3551954</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).&#13; The disorder has been associated with 4 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); and Leigh syndrome with growth retardation (van Maldergem et al., 2002). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment.&#13; Genetic Heterogeneity of Primary Coenzyme Q10 Deficiency&#13; See also COQ10D2 (614651), caused by mutation in the PDSS1 gene (607429) on chromosome 10p12; COQ10D3 (614652), caused by mutation in the PDSS2 gene (610564) on chromosome 6q21; COQ10D4 (612016), caused by mutation in the COQ8 gene (ADCK3; 606980) on chromosome 1q42; COQ10D5 (614654), caused by mutation in the COQ9 gene (612837) on chromosome 16q21; COQ10D6 (614650), caused by mutation in the COQ6 gene (614647) on chromosome 14q24; COQ10D7 (616276), caused by mutation in the COQ4 gene (612898) on chromosome 9q34; COQ10D8 (616733), caused by mutation in the COQ7 gene (601683) on chromosome 16p13; and COQ10D9 (619028), caused by mutation in the COQ5 gene (616359) on chromosome 12q24.&#13; Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD; 231680), caused by mutation in the ETFDH gene (231675) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1; 208920), caused by mutation in the APTX gene (606350) on chromosome 9p13.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/764868">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816295"><div><strong>Nephrotic syndrome, type 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816295</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.">C3809965</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816295">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1627611"><div><strong>Galloway-Mowat syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1627611</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.">C4540266</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1627611">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_1745920"><div><strong>Nephrotic syndrome, type 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1745920</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.">C5436909</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant (Majmundar et al., 2021).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1745920">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794148"><div><strong>Focal segmental glomerulosclerosis and neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794148</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.">C5561938</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed (summary by Assoum et al., 2018 and Weng et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794148">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794176"><div><strong>Aicardi-Goutieres syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794176</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.">C5561966</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Aicardi-Goutieres syndrome-9 (AGS9) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure (Uggenti et al., 2020).&#13; For a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794176">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aicardi-Goutieres syndrome 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_764868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coenzyme Q10 deficiency, primary, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial dysautonomia</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_98011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Finnish congenital nephrotic syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal segmental glomerulosclerosis and neurodevelopmental syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1627611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galloway-Mowat syndrome 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephronophthisis 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1745920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic syndrome, type 22</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic syndrome, type 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340516" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculorenocerebellar syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tubulointerstitial kidney disease, autosomal dominant, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive nephrolithiasis with renal failure</a></div></span></div></div>
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<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/27097894">The podocyte as a direct target for treatment of glomerular disease?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mallipattu SK,
He JC</span><br />
<span class="medgenPMjournal">Am J Physiol Renal Physiol</span>
2016 Jul 1;311(1):F46-51.
Epub 2016 Apr 20
doi: 10.1152/ajprenal.00184.2016.
<span class="bold">PMID: </span><a href="/pubmed/27097894" target="_blank">27097894</a><a href="/pmc/articles/PMC4967158" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23689569">Treatment of progressive IgA nephropathy: an update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
Chen N</span><br />
<span class="medgenPMjournal">Contrib Nephrol</span>
2013;181:75-83.
Epub 2013 May 8
doi: 10.1159/000348460.
<span class="bold">PMID: </span><a href="/pubmed/23689569" target="_blank">23689569</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11467750">Extracorporeal plasma treatment in primary and recurrent focal segmental glomerular sclerosis: a review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bosch T,
Wendler T</span><br />
<span class="medgenPMjournal">Ther Apher</span>
2001 Jun;5(3):155-60.
<span class="bold">PMID: </span><a href="/pubmed/11467750" target="_blank">11467750</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glomerular%20sclerosis%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 (29)</a></div></div>
</div>
<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
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<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/38142038">Post-transplant recurrence of focal segmental glomerular sclerosis: consensus statements.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raina R,
Jothi S,
Haffner D,
Somers M,
Filler G,
Vasistha P,
Chakraborty R,
Shapiro R,
Randhawa PS,
Parekh R,
Licht C,
Bunchman T,
Sethi S,
Mangat G,
Zaritsky J,
Schaefer F,
Warady B,
Bartosh S,
McCulloch M,
Alhasan K,
Swiatecka-Urban A,
Smoyer WE,
Chandraker A,
Yap HK,
Jha V,
Bagga A,
Radhakrishnan J</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2024 Mar;105(3):450-463.
Epub 2023 Dec 22
doi: 10.1016/j.kint.2023.10.017.
<span class="bold">PMID: </span><a href="/pubmed/38142038" target="_blank">38142038</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35409969">Nutritional and Non-Nutritional Strategies in Bodybuilding: Impact on Kidney Function.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tidmas V,
Brazier J,
Hawkins J,
Forbes SC,
Bottoms L,
Farrington K</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2022 Apr 3;19(7)
doi: 10.3390/ijerph19074288.
<span class="bold">PMID: </span><a href="/pubmed/35409969" target="_blank">35409969</a><a href="/pmc/articles/PMC8998289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27887750">Chronic Kidney Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Webster AC,
Nagler EV,
Morton RL,
Masson P</span><br />
<span class="medgenPMjournal">Lancet</span>
2017 Mar 25;389(10075):1238-1252.
Epub 2016 Nov 23
doi: 10.1016/S0140-6736(16)32064-5.
<span class="bold">PMID: </span><a href="/pubmed/27887750" target="_blank">27887750</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24178974">C3 glomerulopathy: clinicopathologic features and predictors of outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Medjeral-Thomas NR,
O'Shaughnessy MM,
O'Regan JA,
Traynor C,
Flanagan M,
Wong L,
Teoh CW,
Awan A,
Waldron M,
Cairns T,
O'Kelly P,
Dorman AM,
Pickering MC,
Conlon PJ,
Cook HT</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2014 Jan;9(1):46-53.
Epub 2013 Oct 31
doi: 10.2215/CJN.04700513.
<span class="bold">PMID: </span><a href="/pubmed/24178974" target="_blank">24178974</a><a href="/pmc/articles/PMC3878702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23803592">Hypertension and kidneys: unraveling complex molecular mechanisms underlying hypertensive renal damage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mennuni S,
Rubattu S,
Pierelli G,
Tocci G,
Fofi C,
Volpe M</span><br />
<span class="medgenPMjournal">J Hum Hypertens</span>
2014 Feb;28(2):74-9.
Epub 2013 Jun 27
doi: 10.1038/jhh.2013.55.
<span class="bold">PMID: </span><a href="/pubmed/23803592" target="_blank">23803592</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerular%20sclerosis%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 (442)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39304273">Anti-nephrin autoantibodies: novel predictors of post-transplant recurrence of focal segmental glomerular sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori M</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2024 Oct;106(4):570-572.
doi: 10.1016/j.kint.2024.08.004.
<span class="bold">PMID: </span><a href="/pubmed/39304273" target="_blank">39304273</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38142038">Post-transplant recurrence of focal segmental glomerular sclerosis: consensus statements.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raina R,
Jothi S,
Haffner D,
Somers M,
Filler G,
Vasistha P,
Chakraborty R,
Shapiro R,
Randhawa PS,
Parekh R,
Licht C,
Bunchman T,
Sethi S,
Mangat G,
Zaritsky J,
Schaefer F,
Warady B,
Bartosh S,
McCulloch M,
Alhasan K,
Swiatecka-Urban A,
Smoyer WE,
Chandraker A,
Yap HK,
Jha V,
Bagga A,
Radhakrishnan J</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2024 Mar;105(3):450-463.
Epub 2023 Dec 22
doi: 10.1016/j.kint.2023.10.017.
<span class="bold">PMID: </span><a href="/pubmed/38142038" target="_blank">38142038</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27887750">Chronic Kidney Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Webster AC,
Nagler EV,
Morton RL,
Masson P</span><br />
<span class="medgenPMjournal">Lancet</span>
2017 Mar 25;389(10075):1238-1252.
Epub 2016 Nov 23
doi: 10.1016/S0140-6736(16)32064-5.
<span class="bold">PMID: </span><a href="/pubmed/27887750" target="_blank">27887750</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24178974">C3 glomerulopathy: clinicopathologic features and predictors of outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Medjeral-Thomas NR,
O'Shaughnessy MM,
O'Regan JA,
Traynor C,
Flanagan M,
Wong L,
Teoh CW,
Awan A,
Waldron M,
Cairns T,
O'Kelly P,
Dorman AM,
Pickering MC,
Conlon PJ,
Cook HT</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2014 Jan;9(1):46-53.
Epub 2013 Oct 31
doi: 10.2215/CJN.04700513.
<span class="bold">PMID: </span><a href="/pubmed/24178974" target="_blank">24178974</a><a href="/pmc/articles/PMC3878702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23803592">Hypertension and kidneys: unraveling complex molecular mechanisms underlying hypertensive renal damage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mennuni S,
Rubattu S,
Pierelli G,
Tocci G,
Fofi C,
Volpe M</span><br />
<span class="medgenPMjournal">J Hum Hypertens</span>
2014 Feb;28(2):74-9.
Epub 2013 Jun 27
doi: 10.1038/jhh.2013.55.
<span class="bold">PMID: </span><a href="/pubmed/23803592" target="_blank">23803592</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerular%20sclerosis%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 (280)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39304273">Anti-nephrin autoantibodies: novel predictors of post-transplant recurrence of focal segmental glomerular sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori M</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2024 Oct;106(4):570-572.
doi: 10.1016/j.kint.2024.08.004.
<span class="bold">PMID: </span><a href="/pubmed/39304273" target="_blank">39304273</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38142038">Post-transplant recurrence of focal segmental glomerular sclerosis: consensus statements.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Raina R,
Jothi S,
Haffner D,
Somers M,
Filler G,
Vasistha P,
Chakraborty R,
Shapiro R,
Randhawa PS,
Parekh R,
Licht C,
Bunchman T,
Sethi S,
Mangat G,
Zaritsky J,
Schaefer F,
Warady B,
Bartosh S,
McCulloch M,
Alhasan K,
Swiatecka-Urban A,
Smoyer WE,
Chandraker A,
Yap HK,
Jha V,
Bagga A,
Radhakrishnan J</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2024 Mar;105(3):450-463.
Epub 2023 Dec 22
doi: 10.1016/j.kint.2023.10.017.
<span class="bold">PMID: </span><a href="/pubmed/38142038" target="_blank">38142038</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33547417">Pathophysiology of diabetic kidney disease: impact of SGLT2 inhibitors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">DeFronzo RA,
Reeves WB,
Awad AS</span><br />
<span class="medgenPMjournal">Nat Rev Nephrol</span>
2021 May;17(5):319-334.
Epub 2021 Feb 5
doi: 10.1038/s41581-021-00393-8.
<span class="bold">PMID: </span><a href="/pubmed/33547417" target="_blank">33547417</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23803592">Hypertension and kidneys: unraveling complex molecular mechanisms underlying hypertensive renal damage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mennuni S,
Rubattu S,
Pierelli G,
Tocci G,
Fofi C,
Volpe M</span><br />
<span class="medgenPMjournal">J Hum Hypertens</span>
2014 Feb;28(2):74-9.
Epub 2013 Jun 27
doi: 10.1038/jhh.2013.55.
<span class="bold">PMID: </span><a href="/pubmed/23803592" target="_blank">23803592</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2225844">Hypertension and glomerular sclerosis: where, when and how?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">el Nahas AM</span><br />
<span class="medgenPMjournal">Contrib Nephrol</span>
1990;78:61-70; discussion 70-2.
doi: 10.1159/000418270.
<span class="bold">PMID: </span><a href="/pubmed/2225844" target="_blank">2225844</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerular%20sclerosis%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 (283)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39084753">Focal Segmental Glomerulosclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suresh V,
Stillman IE,
Campbell KN,
Meliambro K</span><br />
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
2024 Jul;31(4):275-289.
doi: 10.1053/j.akdh.2024.03.009.
<span class="bold">PMID: </span><a href="/pubmed/39084753" target="_blank">39084753</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35409969">Nutritional and Non-Nutritional Strategies in Bodybuilding: Impact on Kidney Function.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tidmas V,
Brazier J,
Hawkins J,
Forbes SC,
Bottoms L,
Farrington K</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2022 Apr 3;19(7)
doi: 10.3390/ijerph19074288.
<span class="bold">PMID: </span><a href="/pubmed/35409969" target="_blank">35409969</a><a href="/pmc/articles/PMC8998289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27887750">Chronic Kidney Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Webster AC,
Nagler EV,
Morton RL,
Masson P</span><br />
<span class="medgenPMjournal">Lancet</span>
2017 Mar 25;389(10075):1238-1252.
Epub 2016 Nov 23
doi: 10.1016/S0140-6736(16)32064-5.
<span class="bold">PMID: </span><a href="/pubmed/27887750" target="_blank">27887750</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24178974">C3 glomerulopathy: clinicopathologic features and predictors of outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Medjeral-Thomas NR,
O'Shaughnessy MM,
O'Regan JA,
Traynor C,
Flanagan M,
Wong L,
Teoh CW,
Awan A,
Waldron M,
Cairns T,
O'Kelly P,
Dorman AM,
Pickering MC,
Conlon PJ,
Cook HT</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2014 Jan;9(1):46-53.
Epub 2013 Oct 31
doi: 10.2215/CJN.04700513.
<span class="bold">PMID: </span><a href="/pubmed/24178974" target="_blank">24178974</a><a href="/pmc/articles/PMC3878702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23803592">Hypertension and kidneys: unraveling complex molecular mechanisms underlying hypertensive renal damage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mennuni S,
Rubattu S,
Pierelli G,
Tocci G,
Fofi C,
Volpe M</span><br />
<span class="medgenPMjournal">J Hum Hypertens</span>
2014 Feb;28(2):74-9.
Epub 2013 Jun 27
doi: 10.1038/jhh.2013.55.
<span class="bold">PMID: </span><a href="/pubmed/23803592" target="_blank">23803592</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerular%20sclerosis%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 (347)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39304273">Anti-nephrin autoantibodies: novel predictors of post-transplant recurrence of focal segmental glomerular sclerosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hattori M</span><br />
<span class="medgenPMjournal">Kidney Int</span>
2024 Oct;106(4):570-572.
doi: 10.1016/j.kint.2024.08.004.
<span class="bold">PMID: </span><a href="/pubmed/39304273" target="_blank">39304273</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38483947">Deficiency of Nuclear Receptor Coactivator 3 Aggravates Diabetic Kidney Disease by Impairing Podocyte Autophagy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xie Y,
Yuan Q,
Cao X,
Qiu Y,
Zeng J,
Cao Y,
Xie Y,
Meng X,
Huang K,
Yi F,
Zhang C</span><br />
<span class="medgenPMjournal">Adv Sci (Weinh)</span>
2024 May;11(19):e2308378.
Epub 2024 Mar 14
doi: 10.1002/advs.202308378.
<span class="bold">PMID: </span><a href="/pubmed/38483947" target="_blank">38483947</a><a href="/pmc/articles/PMC11109634" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35409969">Nutritional and Non-Nutritional Strategies in Bodybuilding: Impact on Kidney Function.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tidmas V,
Brazier J,
Hawkins J,
Forbes SC,
Bottoms L,
Farrington K</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2022 Apr 3;19(7)
doi: 10.3390/ijerph19074288.
<span class="bold">PMID: </span><a href="/pubmed/35409969" target="_blank">35409969</a><a href="/pmc/articles/PMC8998289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31937884">Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nagano C,
Yamamura T,
Horinouchi T,
Aoto Y,
Ishiko S,
Sakakibara N,
Shima Y,
Nakanishi K,
Nagase H,
Iijima K,
Nozu K</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2020 Jan 14;10(1):270.
doi: 10.1038/s41598-019-57149-5.
<span class="bold">PMID: </span><a href="/pubmed/31937884" target="_blank">31937884</a><a href="/pmc/articles/PMC6959278" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24178974">C3 glomerulopathy: clinicopathologic features and predictors of outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Medjeral-Thomas NR,
O'Shaughnessy MM,
O'Regan JA,
Traynor C,
Flanagan M,
Wong L,
Teoh CW,
Awan A,
Waldron M,
Cairns T,
O'Kelly P,
Dorman AM,
Pickering MC,
Conlon PJ,
Cook HT</span><br />
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
2014 Jan;9(1):46-53.
Epub 2013 Oct 31
doi: 10.2215/CJN.04700513.
<span class="bold">PMID: </span><a href="/pubmed/24178974" target="_blank">24178974</a><a href="/pmc/articles/PMC3878702" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerular%20sclerosis%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 (374)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/28992289">Transcriptomics in kidney biopsy is an untapped resource for precision therapy in nephrology: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schena FP,
Nistor I,
Curci C</span><br />
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
2018 Jul 1;33(7):1094-1102.
doi: 10.1093/ndt/gfx211.
<span class="bold">PMID: </span><a href="/pubmed/28992289" target="_blank">28992289</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25772854">The Donor Kidney Biopsy and Its Implications in Predicting Graft Outcomes: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang CJ,
Wetmore JB,
Crary GS,
Kasiske BL</span><br />
<span class="medgenPMjournal">Am J Transplant</span>
2015 Jul;15(7):1903-14.
Epub 2015 Mar 13
doi: 10.1111/ajt.13213.
<span class="bold">PMID: </span><a href="/pubmed/25772854" target="_blank">25772854</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16546196">A systematic review of LDL apheresis in the treatment of cardiovascular disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thompsen J,
Thompson PD</span><br />
<span class="medgenPMjournal">Atherosclerosis</span>
2006 Nov;189(1):31-8.
Epub 2006 Mar 20
doi: 10.1016/j.atherosclerosis.2006.02.030.
<span class="bold">PMID: </span><a href="/pubmed/16546196" target="_blank">16546196</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerular%20sclerosis%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 (3)</a></div></div>
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