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<meta name="keywords" content="C5436909, disease or syndrome, nephrotic syndrome, type 22, nos1ap, nphs22, 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="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). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1745920
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ConceptID=C5436909
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Nephrotic syndrome, type 22<span class="h1sub">(NPHS22)</span></div></h1><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) Click for more information."><span class="highlight" style="background-color:">C5436909</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>NEPHROTIC SYNDROME, TYPE 22; NPHS22</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NOS1AP - ID: 9722 - NCBI Gene" href="/gene/9722" class="medgenPMinfo">NOS1AP</a> (1q23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030895" target="_blank">MONDO:0030895</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619155" target="_blank">619155</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>
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<div class="portlet mgSection" id="ID_100">
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<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">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). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_10308"><div><strong>Nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10308</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) Click for more information.">C0027726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10308">Feature record</a> | <a href="/medgen?term=%22Nephrotic%20syndrome%22%5BClinical%20Features%5D%20OR%2010308%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_61248"><div><strong>Glomerular sclerosis</strong><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) Click for more information.">C0178664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of scar tissue within the glomerulus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61248">Feature record</a> | <a href="/medgen?term=%22Glomerular%20sclerosis%22%5BClinical%20Features%5D%20OR%2061248%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65997"><div><strong>Microscopic hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65997</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) Click for more information.">C0239937</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microscopic hematuria detected by dipstick or microscopic examination of the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65997">Feature record</a> | <a href="/medgen?term=%22Microscopic%20hematuria%22%5BClinical%20Features%5D%20OR%2065997%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_619713"><div><strong>Nephrotic range proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>619713</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) Click for more information.">C0445118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/619713">Feature record</a> | <a href="/medgen?term=%22Nephrotic%20range%20proteinuria%22%5BClinical%20Features%5D%20OR%20619713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488906"><div><strong>Thickened glomerular basement membrane</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488906</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) Click for more information.">C0445347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488906">Feature record</a> | <a href="/medgen?term=%22Thickened%20glomerular%20basement%20membrane%22%5BClinical%20Features%5D%20OR%20488906%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</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) Click for more information.">C2316810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_481733"><div><strong>Podocyte foot process effacement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481733</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) Click for more information.">C3280103</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481733">Feature record</a> | <a href="/medgen?term=%22Podocyte%20foot%20process%20effacement%22%5BClinical%20Features%5D%20OR%20481733%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_581229"><div><strong>Hypoproteinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>581229</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) Click for more information.">C0392692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of protein in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/581229">Feature record</a> | <a href="/medgen?term=%22Hypoproteinemia%22%5BClinical%20Features%5D%20OR%20581229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376817"><div><strong>Generalized edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376817</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) Click for more information.">C1850534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376817">Feature record</a> | <a href="/medgen?term=%22Generalized%20edema%22%5BClinical%20Features%5D%20OR%20376817%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_581229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoproteinemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_61248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomerular sclerosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65997" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microscopic hematuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_619713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic range proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_481733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Podocyte foot process effacement</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thickened glomerular basement membrane</a></span></li></ul></li></ul></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/35587298">Clinical and histopathological features related to time to complete remission in adult-onset minimal change nephrotic syndrome patients with corticosteroid treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morioka F,
|
||
Nakatani S,
|
||
Nishide K,
|
||
Machiba Y,
|
||
Uedono H,
|
||
Tsuda A,
|
||
Ishimura E,
|
||
Mori K,
|
||
Emoto M</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Nephrol</span>
|
||
2022 Oct;26(10):955-962.
|
||
Epub 2022 May 19
|
||
doi: 10.1007/s10157-022-02235-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35587298" target="_blank">35587298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33581711">Rituximab treatment for difficult-to-treat nephrotic syndrome in children: a multicenter, retrospective study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taşdemir M,
|
||
Canpolat N,
|
||
Yıldız N,
|
||
Özçelik G,
|
||
Benzer M,
|
||
Saygılı SK,
|
||
Özkayin EN,
|
||
Türkkan ÖN,
|
||
Balat A,
|
||
Candan C,
|
||
Çelakıl M,
|
||
Yavuz S,
|
||
Akıncı N,
|
||
Göknar N,
|
||
Akgün C,
|
||
Tülpar S,
|
||
Alpay H,
|
||
Sever FL,
|
||
Bilge İ</span><br />
|
||
<span class="medgenPMjournal">Turk J Med Sci</span>
|
||
2021 Aug 30;51(4):1781-1790.
|
||
doi: 10.3906/sag-2012-297.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33581711" target="_blank">33581711</a><a href="/pmc/articles/PMC8569731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33277452">The Effect of Oral Cyclophosphamide in the Treatment of Children with Refractory Idiopathic Nephrotic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esfahani ST,
|
||
Afsharipour M,
|
||
Abedzadeh AA,
|
||
Fahimi D,
|
||
Moghtaderi M,
|
||
Bazargani B,
|
||
Abbasi A</span><br />
|
||
<span class="medgenPMjournal">Iran J Kidney Dis</span>
|
||
2020 Dec;14(6):478-481.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33277452" target="_blank">33277452</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(nephrotic%20syndrome%2C%20type%2022)%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 (13)</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/35239780">Nephrotic syndrome in the elderly: epidemiological aspects, clinical data, and renal biopsy findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soares LR,
|
||
Pantoja Junior JMS,
|
||
Jorge LB,
|
||
Yu L,
|
||
Cavalcante LB,
|
||
Malheiros DMAC,
|
||
Woronik V,
|
||
Dias CB</span><br />
|
||
<span class="medgenPMjournal">Braz J Med Biol Res</span>
|
||
2022;55:e11861.
|
||
Epub 2022 Feb 28
|
||
doi: 10.1590/1414-431X2022e11861.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35239780" target="_blank">35239780</a><a href="/pmc/articles/PMC8905670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35224732">Interventions for focal segmental glomerulosclerosis in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hodson EM,
|
||
Sinha A,
|
||
Cooper TE</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Feb 28;2(2):CD003233.
|
||
doi: 10.1002/14651858.CD003233.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35224732" target="_blank">35224732</a><a href="/pmc/articles/PMC8883337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27589851">Renal dysfunction following bone marrow transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kemmner S,
|
||
Verbeek M,
|
||
Heemann U</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2017 Apr;30(2):201-209.
|
||
Epub 2016 Sep 2
|
||
doi: 10.1007/s40620-016-0345-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27589851" target="_blank">27589851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26311595">Glomerular Diseases Associated With Hepatitis B and C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
Quigg RJ</span><br />
|
||
<span class="medgenPMjournal">Adv Chronic Kidney Dis</span>
|
||
2015 Sep;22(5):343-51.
|
||
doi: 10.1053/j.ackd.2015.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26311595" target="_blank">26311595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23740567">Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng M,
|
||
Yuan W,
|
||
Zhang R,
|
||
Fu P,
|
||
Wu T</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Jun 5;2013(6):CD006335.
|
||
doi: 10.1002/14651858.CD006335.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23740567" target="_blank">23740567</a><a href="/pmc/articles/PMC11380091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2C%20type%2022%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 (89)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35239780">Nephrotic syndrome in the elderly: epidemiological aspects, clinical data, and renal biopsy findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soares LR,
|
||
Pantoja Junior JMS,
|
||
Jorge LB,
|
||
Yu L,
|
||
Cavalcante LB,
|
||
Malheiros DMAC,
|
||
Woronik V,
|
||
Dias CB</span><br />
|
||
<span class="medgenPMjournal">Braz J Med Biol Res</span>
|
||
2022;55:e11861.
|
||
Epub 2022 Feb 28
|
||
doi: 10.1590/1414-431X2022e11861.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35239780" target="_blank">35239780</a><a href="/pmc/articles/PMC8905670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32052153">Crescentic glomerulonephritis in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayer U,
|
||
Schmitz J,
|
||
Bräsen JH,
|
||
Pape L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2020 May;35(5):829-842.
|
||
Epub 2020 Feb 12
|
||
doi: 10.1007/s00467-019-04436-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32052153" target="_blank">32052153</a><a href="/pmc/articles/PMC7096391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27589851">Renal dysfunction following bone marrow transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kemmner S,
|
||
Verbeek M,
|
||
Heemann U</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2017 Apr;30(2):201-209.
|
||
Epub 2016 Sep 2
|
||
doi: 10.1007/s40620-016-0345-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27589851" target="_blank">27589851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26209433">GeneVetter: a web tool for quantitative monogenic assessment of rare diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gillies CE,
|
||
Robertson CC,
|
||
Sampson MG,
|
||
Kang HM</span><br />
|
||
<span class="medgenPMjournal">Bioinformatics</span>
|
||
2015 Nov 15;31(22):3682-4.
|
||
Epub 2015 Jul 23
|
||
doi: 10.1093/bioinformatics/btv432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26209433" target="_blank">26209433</a><a href="/pmc/articles/PMC4643620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8770991">Congenital nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holmberg C,
|
||
Laine J,
|
||
Rönnholm K,
|
||
Ala-Houhala M,
|
||
Jalanko H</span><br />
|
||
<span class="medgenPMjournal">Kidney Int Suppl</span>
|
||
1996 Jan;53:S51-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8770991" target="_blank">8770991</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2C%20type%2022%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 (101)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35239780">Nephrotic syndrome in the elderly: epidemiological aspects, clinical data, and renal biopsy findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soares LR,
|
||
Pantoja Junior JMS,
|
||
Jorge LB,
|
||
Yu L,
|
||
Cavalcante LB,
|
||
Malheiros DMAC,
|
||
Woronik V,
|
||
Dias CB</span><br />
|
||
<span class="medgenPMjournal">Braz J Med Biol Res</span>
|
||
2022;55:e11861.
|
||
Epub 2022 Feb 28
|
||
doi: 10.1590/1414-431X2022e11861.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35239780" target="_blank">35239780</a><a href="/pmc/articles/PMC8905670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35224732">Interventions for focal segmental glomerulosclerosis in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hodson EM,
|
||
Sinha A,
|
||
Cooper TE</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Feb 28;2(2):CD003233.
|
||
doi: 10.1002/14651858.CD003233.pub3.
|
||
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|
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<div class="nl"><a target="_blank" href="/pubmed/32052153">Crescentic glomerulonephritis in children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mayer U,
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<span class="bold">PMID: </span><a href="/pubmed/32052153" target="_blank">32052153</a><a href="/pmc/articles/PMC7096391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27589851">Renal dysfunction following bone marrow transplantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kemmner S,
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Verbeek M,
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<span class="bold">PMID: </span><a href="/pubmed/27589851" target="_blank">27589851</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23740567">Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Feng M,
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Yuan W,
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Zhang R,
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<span class="bold">PMID: </span><a href="/pubmed/23740567" target="_blank">23740567</a><a href="/pmc/articles/PMC11380091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2C%20type%2022%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 (63)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38250076">Clinicopathological and prognostic characteristics of idiopathic membranous nephropathy with dual antigen positivity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
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Wang G,
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Ye N,
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Xu X,
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Cheng W,
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Sun L,
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Dong H,
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Kong L,
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Zhao X,
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<span class="bold">PMID: </span><a href="/pubmed/38250076" target="_blank">38250076</a><a href="/pmc/articles/PMC10796489" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27589851">Renal dysfunction following bone marrow transplantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kemmner S,
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Verbeek M,
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Heemann U</span><br />
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<span class="medgenPMjournal">J Nephrol</span>
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2017 Apr;30(2):201-209.
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Epub 2016 Sep 2
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doi: 10.1007/s40620-016-0345-y.
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<span class="bold">PMID: </span><a href="/pubmed/27589851" target="_blank">27589851</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26311595">Glomerular Diseases Associated With Hepatitis B and C.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
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2015 Sep;22(5):343-51.
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<div class="nl"><a target="_blank" href="/pubmed/26209433">GeneVetter: a web tool for quantitative monogenic assessment of rare diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gillies CE,
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Robertson CC,
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Sampson MG,
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Kang HM</span><br />
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2015 Nov 15;31(22):3682-4.
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<div class="nl"><a target="_blank" href="/pubmed/17609987">Remission of membranoproliferative glomerulonephritis type I with the use of tacrolimus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Haddad M,
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<span class="bold">PMID: </span><a href="/pubmed/17609987" target="_blank">17609987</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2C%20type%2022%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 (70)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34907742">Genetic studies of nephrotic syndrome in Egyptian children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Elmougy R</span><br />
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<span class="medgenPMjournal">J Appl Biomed</span>
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<span class="bold">PMID: </span><a href="/pubmed/34907742" target="_blank">34907742</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33800671">Expression Pattern of α-Tubulin, Inversin and Its Target Dishevelled-1 and Morphology of Primary Cilia in Normal Human Kidney Development and Diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Solic I,
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Racetin A,
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Filipovic N,
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Mardesic S,
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Bocina I,
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Galesic-Ljubanovic D,
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27589851">Renal dysfunction following bone marrow transplantation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kemmner S,
|
||
Verbeek M,
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Heemann U</span><br />
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<span class="medgenPMjournal">J Nephrol</span>
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2017 Apr;30(2):201-209.
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Epub 2016 Sep 2
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<span class="bold">PMID: </span><a href="/pubmed/27589851" target="_blank">27589851</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26209433">GeneVetter: a web tool for quantitative monogenic assessment of rare diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gillies CE,
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Robertson CC,
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Sampson MG,
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Kang HM</span><br />
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<span class="medgenPMjournal">Bioinformatics</span>
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2015 Nov 15;31(22):3682-4.
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Epub 2015 Jul 23
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doi: 10.1093/bioinformatics/btv432.
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<span class="bold">PMID: </span><a href="/pubmed/26209433" target="_blank">26209433</a><a href="/pmc/articles/PMC4643620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/25117488">Podocyte proteins in congenital and minimal change nephrotic syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Suvanto M,
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<span class="bold">PMID: </span><a href="/pubmed/25117488" target="_blank">25117488</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2C%20type%2022%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 (57)</a></div></div>
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35224732">Interventions for focal segmental glomerulosclerosis in adults.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hodson EM,
|
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Sinha A,
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Cooper TE</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2022 Feb 28;2(2):CD003233.
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doi: 10.1002/14651858.CD003233.pub3.
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<span class="bold">PMID: </span><a href="/pubmed/35224732" target="_blank">35224732</a><a href="/pmc/articles/PMC8883337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33007500">AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Delplanque M,
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Galicier L,
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Oziol E,
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Ducharme-Bénard S,
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Oksenhendler E,
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Buob D,
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Grateau G,
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Georgin-Lavialle S</span><br />
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<span class="medgenPMjournal">J Allergy Clin Immunol Pract</span>
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2021 Feb;9(2):745-752.e1.
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Epub 2020 Sep 30
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||
doi: 10.1016/j.jaip.2020.09.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33007500" target="_blank">33007500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23740567">Chinese herbal medicine Huangqi type formulations for nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feng M,
|
||
Yuan W,
|
||
Zhang R,
|
||
Fu P,
|
||
Wu T</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
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2013 Jun 5;2013(6):CD006335.
|
||
doi: 10.1002/14651858.CD006335.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23740567" target="_blank">23740567</a><a href="/pmc/articles/PMC11380091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20538785">Bevacizumab increases risk for severe proteinuria in cancer patients.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu S,
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Kim C,
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Baer L,
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Zhu X</span><br />
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<span class="medgenPMjournal">J Am Soc Nephrol</span>
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2010 Aug;21(8):1381-9.
|
||
Epub 2010 Jun 10
|
||
doi: 10.1681/ASN.2010020167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20538785" target="_blank">20538785</a><a href="/pmc/articles/PMC2938590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nephrotic%20syndrome%2C%20type%2022%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 (4)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/nephrotic_syndrome_type_22" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Nephrotic%20syndrome,%20type%2022" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16428/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc45e684f3725e59c5a5b5">Nephrotic syndrome, type 22</a>
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