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<meta name="keywords" content="C0398777, c3 glomerulopathy 1, c3g-1 complement 3 glomerulopathy 1, c3g1, c3g1 c3 glomerulopathy 1, cfh, cfh deficiency, cfhd, complement factor h deficiency, disease or syndrome, factor h deficiency, glomerulonephritis with isolated c3 deposits and factor h deficiency, membranoproliferative glomerulonephritis, type ii, with complement factor h deficiency, mpgn ii with complement factor h deficiency, 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="C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=96024
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ConceptID=C0398777
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-->
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<!--imgCountBooks = 6--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (6)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image003.gif" src-large="/books/NBK1425/bin/mpgn-Image003.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image005.gif" src-large="/books/NBK1425/bin/mpgn-Image005.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image002.gif" src-large="/books/NBK1425/bin/mpgn-Image002.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image006.gif" src-large="/books/NBK1425/bin/mpgn-Image006.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F6/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image001.gif" src-large="/books/NBK1425/bin/mpgn-Image001.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1425/bin/mpgn-Image004.gif" src-large="/books/NBK1425/bin/mpgn-Image004.jpg" /></a><br /><a href="/books/NBK1425/figure/mpgn.F4/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Factor H deficiency<span class="h1sub">(CFHD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96024</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:">C0398777</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>CFH DEFICIENCY; CFHD; COMPLEMENT FACTOR H DEFICIENCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Factor H deficiency (234622003)</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="CFH - ID: 3075 - NCBI Gene" href="/gene/3075" class="medgenPMinfo">CFH</a> (1q31.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012350" target="_blank">MONDO:0012350</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609814" target="_blank">609814</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1425" target="_blank">C3 Glomerulopathy</a></div><div>C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1425#mpgn.Summary" target="NBK1425">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Diagnosis" target="NBK1425">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Clinical_Characteristics" target="NBK1425">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Genetically_Related_Allelic_Disorde" target="NBK1425">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Differential_Diagnosis" target="NBK1425">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Management" target="NBK1425">Management</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Genetic_Counseling" target="NBK1425">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Resources" target="NBK1425">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Molecular_Genetics" target="NBK1425">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.References" target="NBK1425">References</a> | <a class="medgenPMinfo" href="/books/NBK1425#mpgn.Chapter_Notes" target="NBK1425">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Bertha Martín | Richard JH Smith <a href="/books/NBK1425" target="NBK1425" title="NCBI Bookshelf: C3 Glomerulopathy">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Complement factor H deficiency (CFHD) has a variable phenotype. Some patients present with recurrent infections, including increased susceptibility to meningococcal infections, whereas others develop renal disease manifest primarily as C3 glomerulopathy. Affected individuals usually present in the first decades of life with nonspecific findings such as hematuria and may progress to chronic renal failure. As complement factor H is the key regulator of the alternative pathway of the complement system, CFH deficiency results in inappropriate activation of the alternative complement pathway. Laboratory features usually include decreased serum levels of factor H, due to the genetic defect, as well as secondarily decreased levels of complement component C3 (120700) and other alternative pathway components, consistent with consumption of these factors. The renal phenotype is now considered to be a form of C3 glomerulopathy (C3G), which is a pathologic entity in which C3 is deposited within the kidney glomerulus in the mesangial or intramembranous space; this occurs in the absence of immune complexes or immunoglobulins. Terms used to describe this disease include membranoproliferative glomerulonephritis type II (MPGN II), mesangial glomerulonephritis, dense deposit disease (DDD), and C3 glomerulonephritis (summary by Ault, 2000, reviews by Riedl et al., 2017 and Wong and Kavanagh, 2018).
|
||
Nomenclature and Classification
|
||
Several reviews (Ito et al., 2017, Riedl et al., 2017, Wong and Kavanagh, 2018) have noted that the definition and classification of C3G continues to evolve. Historically, C3G has been referred to as type II membranoproliferative glomerulonephritis (MPGN) or dense deposit disease (DDD) with mesangial or intramembranous deposition of electron dense material. In contrast, MPGN types I and III, which are usually associated with immune complex deposition, tend to show subendothelial and subepithelial electron dense deposits. However, there is significant variability, and the differentiation and distinction between these terms is often unclear. Welch (2002) also discussed the role of complement in renal disease.
|
||
A subgroup of patients with MGPN II who do not have mutations in the CFH gene are positive for serum C3 nephritic factor (C3NeF), which is an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. Presence of C3NeF prolongs the half-life of C3 convertase, which also results in inappropriate activation of the complement cascade (summary by Abrera-Abeleda et al., 2006).
|
||
Genetic Heterogeneity of C3G
|
||
C3G2 (610984) is caused by mutation in the CFI gene (217030) on chromosome 4q25, and C3G3 (614809) is caused by mutation in the CFHR5 gene (608593) on chromosome 1q31. <a target="_blank" href="http://www.omim.org/entry/609814">http://www.omim.org/entry/609814</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Researchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood.<br /><br />The kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.<br /><br />One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life.<br /><br />C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood. <a target="_blank" href="https://medlineplus.gov/genetics/condition/c3-glomerulopathy">https://medlineplus.gov/genetics/condition/c3-glomerulopathy</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_5488"><div><strong>Hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5488</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.">C0018965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen?term=%22Hematuria%22%5BClinical%20Features%5D%20OR%205488%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_473458"><div><strong>Chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473458</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.">C1561643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Functional anomaly of the kidney persisting for at least three months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473458">Feature record</a> | <a href="/medgen?term=%22Chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20473458%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370779"><div><strong>Glomerular subendothelial electron-dense deposits</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370779</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.">C4476539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Electron dense deposits at the glomerular basement membrane,</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370779">Feature record</a> | <a href="/medgen?term=%22Glomerular%20subendothelial%20electron-dense%20deposits%22%5BClinical%20Features%5D%20OR%201370779%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334943"><div><strong>Recurrent bacterial infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334943</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.">C1844383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334943">Feature record</a> | <a href="/medgen?term=%22Recurrent%20bacterial%20infections%22%5BClinical%20Features%5D%20OR%20334943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_369958"><div><strong>Depletion of components of the alternative complement pathway</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369958</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.">C1969220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369958">Feature record</a> | <a href="/medgen?term=%22Depletion%20of%20components%20of%20the%20alternative%20complement%20pathway%22%5BClinical%20Features%5D%20OR%20369958%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_409784"><div><strong>Decreased circulating complement factor H concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409784</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.">C1969222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component factor H in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409784">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20factor%20H%20concentration%22%5BClinical%20Features%5D%20OR%20409784%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 the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic kidney disease</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomerular subendothelial electron-dense deposits</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematuria</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><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_409784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement factor H concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_369958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depletion of components of the alternative complement pathway</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent bacterial infections</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/17327284">Association of genotypes of thrombin-activatable fibrinolysis inhibitors with thrombotic microangiopathies--a pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sucker C,
|
||
Hetzel GR,
|
||
Farokhzad F,
|
||
Dahhan F,
|
||
Schmitz M,
|
||
Kurschat C,
|
||
Grabensee B,
|
||
Maruhn-Debowski B,
|
||
Zotz R,
|
||
Scharf R</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2007 May;22(5):1347-50.
|
||
Epub 2007 Feb 27
|
||
doi: 10.1093/ndt/gfl753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17327284" target="_blank">17327284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16810287">Factor H genotype-phenotype correlations: lessons from aHUS, MPGN II, and AMD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goodship TH</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2006 Jul;70(1):12-3.
|
||
doi: 10.1038/sj.ki.5001612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16810287" target="_blank">16810287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11467754">Extracorporeal plasma treatment in thrombotic thrombocytopenic purpura and hemolytic uremic syndrome: 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):182-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11467754" target="_blank">11467754</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22factor%20h%20deficiency%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 (3)</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/37463351">Inborn Errors of Immunity in Children With Invasive Pneumococcal Disease: A Multicenter Prospective Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phuong LK,
|
||
Cheung A,
|
||
Agrawal R,
|
||
Butters C,
|
||
Buttery J,
|
||
Clark J,
|
||
Connell T,
|
||
Curtis N,
|
||
Daley AJ,
|
||
Dobinson HC,
|
||
Frith C,
|
||
Hameed NS,
|
||
Hernstadt H,
|
||
Krieser DM,
|
||
Loke P,
|
||
Ojaimi S,
|
||
McMullan B,
|
||
Pinzon-Charry A,
|
||
Sharp EG,
|
||
Sinnappurajar P,
|
||
Templeton T,
|
||
Wen S,
|
||
Cole T,
|
||
Gwee A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Infect Dis J</span>
|
||
2023 Oct 1;42(10):908-913.
|
||
Epub 2023 Jul 7
|
||
doi: 10.1097/INF.0000000000004004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37463351" target="_blank">37463351</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24664701">The role of complement dysregulation in AMD mouse models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ding JD,
|
||
Kelly U,
|
||
Groelle M,
|
||
Christenbury JG,
|
||
Zhang W,
|
||
Bowes Rickman C</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2014;801:213-9.
|
||
doi: 10.1007/978-1-4614-3209-8_28.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24664701" target="_blank">24664701</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23830046">Complement factor H related proteins (CFHRs).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skerka C,
|
||
Chen Q,
|
||
Fremeaux-Bacchi V,
|
||
Roumenina LT</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2013 Dec 15;56(3):170-80.
|
||
Epub 2013 Jul 3
|
||
doi: 10.1016/j.molimm.2013.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23830046" target="_blank">23830046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21601923">Dense deposit disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith RJ,
|
||
Harris CL,
|
||
Pickering MC</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2011 Aug;48(14):1604-10.
|
||
Epub 2011 May 24
|
||
doi: 10.1016/j.molimm.2011.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21601923" target="_blank">21601923</a><a href="/pmc/articles/PMC3142282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20613506">Atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavanagh D,
|
||
Goodship TH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2010 Sep;17(5):432-8.
|
||
doi: 10.1097/MOH.0b013e32833cae86.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20613506" target="_blank">20613506</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20H%20deficiency%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 (33)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37463351">Inborn Errors of Immunity in Children With Invasive Pneumococcal Disease: A Multicenter Prospective Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phuong LK,
|
||
Cheung A,
|
||
Agrawal R,
|
||
Butters C,
|
||
Buttery J,
|
||
Clark J,
|
||
Connell T,
|
||
Curtis N,
|
||
Daley AJ,
|
||
Dobinson HC,
|
||
Frith C,
|
||
Hameed NS,
|
||
Hernstadt H,
|
||
Krieser DM,
|
||
Loke P,
|
||
Ojaimi S,
|
||
McMullan B,
|
||
Pinzon-Charry A,
|
||
Sharp EG,
|
||
Sinnappurajar P,
|
||
Templeton T,
|
||
Wen S,
|
||
Cole T,
|
||
Gwee A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Infect Dis J</span>
|
||
2023 Oct 1;42(10):908-913.
|
||
Epub 2023 Jul 7
|
||
doi: 10.1097/INF.0000000000004004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37463351" target="_blank">37463351</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32529325">Deficiency of CFHR plasma proteins and autoantibody positive hemolytic uremic syndrome: treatment rationale, outcomes, and monitoring.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iorember F,
|
||
Nayak A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2021 Jun;36(6):1365-1375.
|
||
Epub 2020 Jun 12
|
||
doi: 10.1007/s00467-020-04652-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32529325" target="_blank">32529325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28538511">Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasegawa D,
|
||
Saito A,
|
||
Nino N,
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Uemura S,
|
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Takafuji S,
|
||
Yokoi T,
|
||
Kozaki A,
|
||
Ishida T,
|
||
Kawasaki K,
|
||
Yasumi T,
|
||
Sakata N,
|
||
Ohtsuka Y,
|
||
Hirase S,
|
||
Mori T,
|
||
Nishimura N,
|
||
Kusumoto M,
|
||
Ogawa Y,
|
||
Tominaga K,
|
||
Nakagawa T,
|
||
Kanda K,
|
||
Tanaka R,
|
||
Kosaka Y</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2018 Jan;40(1):e41-e44.
|
||
doi: 10.1097/MPH.0000000000000862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28538511" target="_blank">28538511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21601923">Dense deposit disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith RJ,
|
||
Harris CL,
|
||
Pickering MC</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2011 Aug;48(14):1604-10.
|
||
Epub 2011 May 24
|
||
doi: 10.1016/j.molimm.2011.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21601923" target="_blank">21601923</a><a href="/pmc/articles/PMC3142282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18449173">Chronic course of a hemolytic uremic syndrome caused by a deficiency of factor H-related proteins (CFHR1 and CFHR3).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koziolek MJ,
|
||
Zipfel PF,
|
||
Skerka C,
|
||
Vasko R,
|
||
Gröne EF,
|
||
Müller GA,
|
||
Strutz F</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2008 Aug;74(3):384-8.
|
||
Epub 2008 Apr 30
|
||
doi: 10.1038/ki.2008.133.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18449173" target="_blank">18449173</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20H%20deficiency%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 (27)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38368725">Efficacy of GalNAc C3 siRNAs in factor H-deficient mice with C3 glomerulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zanchi C,
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||
Locatelli M,
|
||
Cerullo D,
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Aumiller V,
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Corna D,
|
||
Rottoli D,
|
||
Schubert S,
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||
Noris M,
|
||
Tomasoni S,
|
||
Remuzzi G,
|
||
Zoja C,
|
||
Benigni A</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2024 Apr;168:10-16.
|
||
Epub 2024 Feb 17
|
||
doi: 10.1016/j.molimm.2024.02.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38368725" target="_blank">38368725</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28538511">Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasegawa D,
|
||
Saito A,
|
||
Nino N,
|
||
Uemura S,
|
||
Takafuji S,
|
||
Yokoi T,
|
||
Kozaki A,
|
||
Ishida T,
|
||
Kawasaki K,
|
||
Yasumi T,
|
||
Sakata N,
|
||
Ohtsuka Y,
|
||
Hirase S,
|
||
Mori T,
|
||
Nishimura N,
|
||
Kusumoto M,
|
||
Ogawa Y,
|
||
Tominaga K,
|
||
Nakagawa T,
|
||
Kanda K,
|
||
Tanaka R,
|
||
Kosaka Y</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2018 Jan;40(1):e41-e44.
|
||
doi: 10.1097/MPH.0000000000000862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28538511" target="_blank">28538511</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20613506">Atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavanagh D,
|
||
Goodship TH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2010 Sep;17(5):432-8.
|
||
doi: 10.1097/MOH.0b013e32833cae86.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20613506" target="_blank">20613506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19411110">Factor H facilitates the clearance of GBM bound iC3b by controlling C3 activation in fluid phase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paixão-Cavalcante D,
|
||
Hanson S,
|
||
Botto M,
|
||
Cook HT,
|
||
Pickering MC</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2009 Jun;46(10):1942-50.
|
||
Epub 2009 May 2
|
||
doi: 10.1016/j.molimm.2009.03.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19411110" target="_blank">19411110</a><a href="/pmc/articles/PMC2697322" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18755867">Atypical haemolytic uremic syndrome complicated by microangiopathic antiphospholipid-associated syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meglic A,
|
||
Grosek S,
|
||
Benedik-Dolnicar M,
|
||
Avcin T</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2008 Sep;17(9):842-5.
|
||
doi: 10.1177/0961203308091634.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18755867" target="_blank">18755867</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20H%20deficiency%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 (25)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37463351">Inborn Errors of Immunity in Children With Invasive Pneumococcal Disease: A Multicenter Prospective Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phuong LK,
|
||
Cheung A,
|
||
Agrawal R,
|
||
Butters C,
|
||
Buttery J,
|
||
Clark J,
|
||
Connell T,
|
||
Curtis N,
|
||
Daley AJ,
|
||
Dobinson HC,
|
||
Frith C,
|
||
Hameed NS,
|
||
Hernstadt H,
|
||
Krieser DM,
|
||
Loke P,
|
||
Ojaimi S,
|
||
McMullan B,
|
||
Pinzon-Charry A,
|
||
Sharp EG,
|
||
Sinnappurajar P,
|
||
Templeton T,
|
||
Wen S,
|
||
Cole T,
|
||
Gwee A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Infect Dis J</span>
|
||
2023 Oct 1;42(10):908-913.
|
||
Epub 2023 Jul 7
|
||
doi: 10.1097/INF.0000000000004004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37463351" target="_blank">37463351</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26185203">Kidney Disease Caused by Dysregulation of the Complement Alternative Pathway: An Etiologic Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vriese AS,
|
||
Sethi S,
|
||
Van Praet J,
|
||
Nath KA,
|
||
Fervenza FC</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2015 Dec;26(12):2917-29.
|
||
Epub 2015 Jul 16
|
||
doi: 10.1681/ASN.2015020184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26185203" target="_blank">26185203</a><a href="/pmc/articles/PMC4657846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21601923">Dense deposit disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith RJ,
|
||
Harris CL,
|
||
Pickering MC</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2011 Aug;48(14):1604-10.
|
||
Epub 2011 May 24
|
||
doi: 10.1016/j.molimm.2011.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21601923" target="_blank">21601923</a><a href="/pmc/articles/PMC3142282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18755867">Atypical haemolytic uremic syndrome complicated by microangiopathic antiphospholipid-associated syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meglic A,
|
||
Grosek S,
|
||
Benedik-Dolnicar M,
|
||
Avcin T</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2008 Sep;17(9):842-5.
|
||
doi: 10.1177/0961203308091634.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18755867" target="_blank">18755867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18449173">Chronic course of a hemolytic uremic syndrome caused by a deficiency of factor H-related proteins (CFHR1 and CFHR3).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koziolek MJ,
|
||
Zipfel PF,
|
||
Skerka C,
|
||
Vasko R,
|
||
Gröne EF,
|
||
Müller GA,
|
||
Strutz F</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2008 Aug;74(3):384-8.
|
||
Epub 2008 Apr 30
|
||
doi: 10.1038/ki.2008.133.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18449173" target="_blank">18449173</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20H%20deficiency%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 (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26185203">Kidney Disease Caused by Dysregulation of the Complement Alternative Pathway: An Etiologic Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vriese AS,
|
||
Sethi S,
|
||
Van Praet J,
|
||
Nath KA,
|
||
Fervenza FC</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2015 Dec;26(12):2917-29.
|
||
Epub 2015 Jul 16
|
||
doi: 10.1681/ASN.2015020184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26185203" target="_blank">26185203</a><a href="/pmc/articles/PMC4657846" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19411110">Factor H facilitates the clearance of GBM bound iC3b by controlling C3 activation in fluid phase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paixão-Cavalcante D,
|
||
Hanson S,
|
||
Botto M,
|
||
Cook HT,
|
||
Pickering MC</span><br />
|
||
<span class="medgenPMjournal">Mol Immunol</span>
|
||
2009 Jun;46(10):1942-50.
|
||
Epub 2009 May 2
|
||
doi: 10.1016/j.molimm.2009.03.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19411110" target="_blank">19411110</a><a href="/pmc/articles/PMC2697322" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18190458">Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pickering MC,
|
||
Cook HT</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Immunol</span>
|
||
2008 Feb;151(2):210-30.
|
||
doi: 10.1111/j.1365-2249.2007.03574.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18190458" target="_blank">18190458</a><a href="/pmc/articles/PMC2276951" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13680331">The risk of recurrence of hemolytic uremic syndrome after renal transplantation in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loirat C,
|
||
Niaudet P</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2003 Nov;18(11):1095-101.
|
||
Epub 2003 Sep 17
|
||
doi: 10.1007/s00467-003-1289-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13680331" target="_blank">13680331</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9035182">C3 nephritic factor and mesangiocapillary glomerulonephritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams DG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
1997 Feb;11(1):96-8.
|
||
doi: 10.1007/s004670050241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9035182" target="_blank">9035182</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Factor%20H%20deficiency%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 (21)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0398777%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C0398777%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0398777%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C0398777%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0398777%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=609814" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Factor%20H%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22factor%20h%20deficiency%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Factor%20H%20deficiency%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=134370" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3075[geneid]" target="_blank">View CFH variations in ClinVar</a></li><li><a href="/nuccore/163965383" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=609814" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Factor+H+deficiency/8366" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/complement_factor_h_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Factor%20H%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/c3-glomerulopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18551/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
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|
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<div class="portlet brieflink">
|
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<h3>Reviews</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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||
<a href="/pubmed/20301598" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
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|
||
<a href="/pubmed/clinical?term=Factor%20H%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
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|
||
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|
||
<a href="/pubmed?term=Factor%20H%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
||
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|
||
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|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
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||
<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=96024" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0398777[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=96024" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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|
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|
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|
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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=96024" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=96024" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=96024" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=96024" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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</li>
|
||
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc3860b15b832ebc3f2246">Factor H deficiency</a>
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<div class="ralinkpop offscreen_noflow">Factor H deficiency<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc385f84f3725e59837f3f">C0398777[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc385ef4a390645e87c741">C5561960[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(5)</span></a>
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<div class="ralinkpop offscreen_noflow">C5561960[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc385df4a390645e87c497">Facioscapulohumeral muscular dystrophy 4, digenic</a>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc385cb15b832ebc3f0aba">C5561960[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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