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<meta name="keywords" content="C2752039, ahus with i factor anomaly, ahus, susceptibility to, 3, ahus3, atypical hemolytic-uremic syndrome 3, atypical hemolytic-uremic syndrome with i factor anomaly, atypical hus with i factor anomaly, cfi, d-hus with i factor anomaly, finding, hemolytic uremic syndrome, atypical, susceptibility to, 3, hemolytic uremic syndrome, atypical, susceptibility to, type 3, hemolytic-uremic syndrome without diarrhea with i factor anomaly, hemolytic-uremic syndrome without diarrhoea with i factor anomaly, susceptibility to atypical hemolytic uremic syndrome 3, 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="Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=414542
|
||
ConceptID=C2752039
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Atypical hemolytic-uremic syndrome with I factor anomaly<span class="h1sub">(AHUS3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414542</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.">C2752039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AHUS, SUSCEPTIBILITY TO, 3; Atypical hemolytic-uremic syndrome 3; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3</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="CFI - ID: 3426 - NCBI Gene" href="/gene/3426" class="medgenPMinfo">CFI</a> (4q25)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013041" target="_blank">MONDO:0013041</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612923" target="_blank">612923</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">
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||
<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/NBK1367" target="_blank">Genetic Atypical Hemolytic-Uremic Syndrome</a></div><div>Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [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/NBK1367#husa.Summary" target="NBK1367">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Diagnosis" target="NBK1367">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Clinical_Characteristics" target="NBK1367">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Genetically_Related_Allelic_Disorde" target="NBK1367">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Differential_Diagnosis" target="NBK1367">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Management" target="NBK1367">Management</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Genetic_Counseling" target="NBK1367">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Resources" target="NBK1367">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Molecular_Genetics" target="NBK1367">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.Chapter_Notes" target="NBK1367">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1367#husa.References" target="NBK1367">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Marina Noris | Elena Bresin | Caterina Mele<i>, et. al.</i> <a href="/books/NBK1367" target="NBK1367" title="NCBI Bookshelf: Genetic Atypical Hemolytic-Uremic Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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 />Atypical hemolytic uremic syndrome-2 (AHUS2) is clinically manifest as a combination of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment, in the absence of a triggering Shiga toxin-producing E. coli infection (Caprioli et al., 2006).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400). <a target="_blank" href="http://www.omim.org/entry/612923">http://www.omim.org/entry/612923</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.<br /><br />Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break apart as they squeeze past clots within small blood vessels. Anemia results if these cells are destroyed faster than the body can replace them. Anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate.<br /><br />Thrombocytopenia is a reduced level of circulating platelets, which are cells that normally assist with blood clotting. In people with atypical hemolytic-uremic syndrome, fewer platelets are available in the bloodstream because a large number of platelets are used to make abnormal clots. Thrombocytopenia can cause easy bruising and abnormal bleeding.<br /><br />Atypical hemolytic-uremic syndrome should be distinguished from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, the typical form is caused by infection with certain strains of Escherichia coli bacteria that produce toxic substances called Shiga-like toxins. The typical form is characterized by severe diarrhea and most often affects children younger than 10. The typical form is less likely than the atypical form to involve recurrent attacks of kidney damage that lead to ESRD.<br /><br />As a result of clot formation in small blood vessels, people with atypical hemolytic-uremic syndrome experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of all cases. These life-threatening complications prevent the kidneys from filtering fluids and waste products from the body effectively. <a target="_blank" href="https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome">https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome</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_358"><div><strong>Anuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358</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.">C0003460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of urine, clinically classified as below 50ml/day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358">Feature record</a> | <a href="/medgen?term=%22Anuria%22%5BClinical%20Features%5D%20OR%20358%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_42403"><div><strong>Hemolytic-uremic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42403</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.">C0019061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42403">Feature record</a> | <a href="/medgen?term=%22Hemolytic-uremic%20syndrome%22%5BClinical%20Features%5D%20OR%2042403%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_388570"><div><strong>Acute kidney injury</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388570</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.">C2609414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Acute%20kidney%20injury%22%5BClinical%20Features%5D%20OR%20388570%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</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.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65120"><div><strong>Microangiopathic hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65120</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.">C0221021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acquired anemia due to destruction of red blood cells by physical trauma such as FIBRIN strands in the blood vessels, artificial heart valve, AORTIC COARCTATION. I can also be associated with hematologic diseases such as DISSEMINATED INTRAVASCULAR COAGULATION; HEMOLYTIC-UREMIC SYNDROME; and THROMBOTIC THROMBOCYTOPENIC PURPURA.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65120">Feature record</a> | <a href="/medgen?term=%22Microangiopathic%20hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%2065120%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332469"><div><strong>Decreased circulating complement C3 concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332469</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.">C1837512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component C3 in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332469">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20C3%20concentration%22%5BClinical%20Features%5D%20OR%20332469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_760252"><div><strong>Increased blood urea nitrogen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760252</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.">C0151539</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of nitrogen in the form of urea in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/760252">Feature record</a> | <a href="/medgen?term=%22Increased%20blood%20urea%20nitrogen%22%5BClinical%20Features%5D%20OR%20760252%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148579"><div><strong>Elevated circulating creatinine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148579</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.">C0700225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of creatinine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148579">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatinine%20concentration%22%5BClinical%20Features%5D%20OR%20148579%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microangiopathic hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><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_148579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatinine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_760252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased blood urea nitrogen</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</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_388570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute kidney injury</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anuria</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_42403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic-uremic syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</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_332469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement C3 concentration</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0019061[DISCUI]&test_type=Clinical" ref="ncbi_uid=42403">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=42403" ref="ncbi_uid=42403">V</a></span></span><span class="TLline"><a href="/medgen/42403" ref="tree=GTR&ncbi_uid=42403&link_uid=42403" title="View MedGen record for 'Hemolytic-uremic syndrome'">Hemolytic-uremic syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931788[DISCUI]&test_type=Clinical" ref="ncbi_uid=444141">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=444141">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=444141" ref="ncbi_uid=444141">V</a></span></span><span class="TLline"><a href="/medgen/444141" ref="tree=GTR&ncbi_uid=444141&link_uid=444141" title="View MedGen record for 'Atypical hemolytic-uremic syndrome'">Atypical hemolytic-uremic syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752038[DISCUI]&test_type=Clinical" ref="ncbi_uid=416691">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416691" target="_blank" href="/omim/138470">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=416691">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416691" ref="ncbi_uid=416691">V</a></span></span><span class="TLline"><a href="/medgen/416691" ref="tree=GTR&ncbi_uid=416691&link_uid=416691" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with B factor anomaly'">Atypical hemolytic-uremic syndrome with B factor anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752037[DISCUI]&test_type=Clinical" ref="ncbi_uid=442875">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442875" target="_blank" href="/omim/120700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=442875">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442875" ref="ncbi_uid=442875">V</a></span></span><span class="TLline"><a href="/medgen/442875" ref="tree=GTR&ncbi_uid=442875&link_uid=442875" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with C3 anomaly'">Atypical hemolytic-uremic syndrome with C3 anomaly</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752039[DISCUI]&test_type=Clinical" ref="ncbi_uid=414542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414542" target="_blank" href="/omim/217030">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=414542">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414542" ref="ncbi_uid=414542">V</a></span></span><span class="TLline">Atypical hemolytic-uremic syndrome with I factor anomaly</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752040[DISCUI]&test_type=Clinical" ref="ncbi_uid=414167">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414167" target="_blank" href="/omim/120920">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=414167">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414167" ref="ncbi_uid=414167">V</a></span></span><span class="TLline"><a href="/medgen/414167" ref="tree=GTR&ncbi_uid=414167&link_uid=414167" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly'">Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752036[DISCUI]&test_type=Clinical" ref="ncbi_uid=414541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414541" target="_blank" href="/omim/188040">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=414541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414541" ref="ncbi_uid=414541">V</a></span></span><span class="TLline"><a href="/medgen/414541" ref="tree=GTR&ncbi_uid=414541&link_uid=414541" title="View MedGen record for 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly'">Atypical hemolytic-uremic syndrome with thrombomodulin anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN036211[DISCUI]&test_type=Clinical" ref="ncbi_uid=430731">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=430731">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/430731" ref="tree=GTR&ncbi_uid=430731&link_uid=430731" title="View MedGen record for 'Hemolytic uremic syndrome, atypical, childhood'">Hemolytic uremic syndrome, atypical, childhood</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969906[DISCUI]&test_type=Clinical" ref="ncbi_uid=370773">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370773" target="_blank" href="/omim/134371">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370773" ref="ncbi_uid=370773">V</a></span></span><span class="TLline"><a href="/medgen/370773" ref="tree=GTR&ncbi_uid=370773&link_uid=370773" title="View MedGen record for 'Hemolytic uremic syndrome, atypical, susceptibility to'">Hemolytic uremic syndrome, atypical, susceptibility to</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2749604[DISCUI]&test_type=Clinical" ref="ncbi_uid=412743">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412743" target="_blank" href="/omim/134370">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1367/" ref="ncbi_uid=412743">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412743" ref="ncbi_uid=412743">V</a></span></span><span class="TLline"><a href="/medgen/412743" ref="tree=GTR&ncbi_uid=412743&link_uid=412743" title="View MedGen record for 'Hemolytic uremic syndrome, atypical, susceptibility to, 1'">Hemolytic uremic syndrome, atypical, susceptibility to, 1</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN072396[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=449003">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/449003" ref="tree=GTR&ncbi_uid=449003&link_uid=449003" title="View MedGen record for 'D-plus hemolytic uremic syndrome (D+HUS)'">D-plus hemolytic uremic syndrome (D+HUS)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1268937[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=692757">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/692757" ref="tree=GTR&ncbi_uid=692757&link_uid=692757" title="View MedGen record for 'Diarrhea-negative hemolytic uremic syndrome'">Diarrhea-negative hemolytic uremic syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/508816" ref="tree=MeSH" title="MedGen record for Abnormal renal physiology">Abnormal renal physiology</a></span><ul><li><span class="TLline"><a href="/medgen/42403" ref="tree=MeSH" title="MedGen record for Hemolytic-uremic syndrome">Hemolytic-uremic syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/444141" ref="tree=MeSH" title="MedGen record for Atypical hemolytic-uremic syndrome">Atypical hemolytic-uremic syndrome</a></span><ul><li><span class="matched_ds">Atypical hemolytic-uremic syndrome with I factor anomaly</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12420&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Atypical hemolytic-uremic syndrome with I factor anomaly</span> in Orphanet.</div></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/36845135">An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gastoldi S,
|
||
Aiello S,
|
||
Galbusera M,
|
||
Breno M,
|
||
Alberti M,
|
||
Bresin E,
|
||
Mele C,
|
||
Piras R,
|
||
Liguori L,
|
||
Santarsiero D,
|
||
Benigni A,
|
||
Remuzzi G,
|
||
Noris M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1112257.
|
||
Epub 2023 Feb 9
|
||
doi: 10.3389/fimmu.2023.1112257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36845135" target="_blank">36845135</a><a href="/pmc/articles/PMC9949374" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30294946">Atypical Hemolytic-Uremic Syndrome: An Update on Pathophysiology, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raina R,
|
||
Krishnappa V,
|
||
Blaha T,
|
||
Kann T,
|
||
Hein W,
|
||
Burke L,
|
||
Bagga A</span><br />
|
||
<span class="medgenPMjournal">Ther Apher Dial</span>
|
||
2019 Feb;23(1):4-21.
|
||
Epub 2018 Oct 29
|
||
doi: 10.1111/1744-9987.12763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30294946" target="_blank">30294946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24343712">Diagnostic criteria for atypical hemolytic uremic syndrome proposed by the Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sawai T,
|
||
Nangaku M,
|
||
Ashida A,
|
||
Fujimaru R,
|
||
Hataya H,
|
||
Hidaka Y,
|
||
Kaname S,
|
||
Okada H,
|
||
Sato W,
|
||
Yasuda T,
|
||
Yoshida Y,
|
||
Fujimura Y,
|
||
Hattori M,
|
||
Kagami S;
|
||
Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Nephrol</span>
|
||
2014 Feb;18(1):4-9.
|
||
doi: 10.1007/s10157-013-0911-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24343712" target="_blank">24343712</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(atypical%20hemolytic-uremic%20syndrome%20with%20i%20factor%20anomaly)%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 (4)</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/38280096">Outcome of atypical hemolytic uremic syndrome: role of triggers and complement abnormalities in the response to C5 inhibition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ardissino G,
|
||
Cresseri D,
|
||
Mancuso MC,
|
||
Capone V,
|
||
Porcaro L,
|
||
Amico V,
|
||
Tangredi M,
|
||
Grovetti E,
|
||
Griffini S,
|
||
Castellano G,
|
||
Montini G,
|
||
Consonni D,
|
||
Cugno M;
|
||
HUS-ItalKid Network.</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2024 May;37(4):1017-1026.
|
||
Epub 2024 Jan 27
|
||
doi: 10.1007/s40620-023-01873-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38280096" target="_blank">38280096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21902819">Atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loirat C,
|
||
Frémeaux-Bacchi V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Sep 8;6:60.
|
||
doi: 10.1186/1750-1172-6-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21902819" target="_blank">21902819</a><a href="/pmc/articles/PMC3198674" 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 class="nl"><a target="_blank" href="/pubmed/20595690">Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noris M,
|
||
Caprioli J,
|
||
Bresin E,
|
||
Mossali C,
|
||
Pianetti G,
|
||
Gamba S,
|
||
Daina E,
|
||
Fenili C,
|
||
Castelletti F,
|
||
Sorosina A,
|
||
Piras R,
|
||
Donadelli R,
|
||
Maranta R,
|
||
van der Meer I,
|
||
Conway EM,
|
||
Zipfel PF,
|
||
Goodship TH,
|
||
Remuzzi G</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2010 Oct;5(10):1844-59.
|
||
Epub 2010 Jul 1
|
||
doi: 10.2215/CJN.02210310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20595690" target="_blank">20595690</a><a href="/pmc/articles/PMC2974386" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16102032">Thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lämmle B,
|
||
Kremer Hovinga JA,
|
||
Alberio L</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2005 Aug;3(8):1663-75.
|
||
doi: 10.1111/j.1538-7836.2005.01425.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16102032" target="_blank">16102032</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atypical%20hemolytic-uremic%20syndrome%20with%20I%20factor%20anomaly%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 (42)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33536243">Inherited Kidney Complement Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lemaire M,
|
||
Noone D,
|
||
Lapeyraque AL,
|
||
Licht C,
|
||
Frémeaux-Bacchi V</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2021 Jun;16(6):942-956.
|
||
Epub 2021 Feb 3
|
||
doi: 10.2215/CJN.11830720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33536243" target="_blank">33536243</a><a href="/pmc/articles/PMC8216622" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30393246">Pathogenesis of Atypical Hemolytic Uremic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida Y,
|
||
Kato H,
|
||
Ikeda Y,
|
||
Nangaku M</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2019 Feb 1;26(2):99-110.
|
||
Epub 2018 Nov 2
|
||
doi: 10.5551/jat.RV17026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30393246" target="_blank">30393246</a><a href="/pmc/articles/PMC6365154" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30294946">Atypical Hemolytic-Uremic Syndrome: An Update on Pathophysiology, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raina R,
|
||
Krishnappa V,
|
||
Blaha T,
|
||
Kann T,
|
||
Hein W,
|
||
Burke L,
|
||
Bagga A</span><br />
|
||
<span class="medgenPMjournal">Ther Apher Dial</span>
|
||
2019 Feb;23(1):4-21.
|
||
Epub 2018 Oct 29
|
||
doi: 10.1111/1744-9987.12763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30294946" target="_blank">30294946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21902819">Atypical hemolytic uremic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loirat C,
|
||
Frémeaux-Bacchi V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Sep 8;6:60.
|
||
doi: 10.1186/1750-1172-6-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21902819" target="_blank">21902819</a><a href="/pmc/articles/PMC3198674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16102032">Thrombotic thrombocytopenic purpura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lämmle B,
|
||
Kremer Hovinga JA,
|
||
Alberio L</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2005 Aug;3(8):1663-75.
|
||
doi: 10.1111/j.1538-7836.2005.01425.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16102032" target="_blank">16102032</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atypical%20hemolytic-uremic%20syndrome%20with%20I%20factor%20anomaly%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 (42)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38280096">Outcome of atypical hemolytic uremic syndrome: role of triggers and complement abnormalities in the response to C5 inhibition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ardissino G,
|
||
Cresseri D,
|
||
Mancuso MC,
|
||
Capone V,
|
||
Porcaro L,
|
||
Amico V,
|
||
Tangredi M,
|
||
Grovetti E,
|
||
Griffini S,
|
||
Castellano G,
|
||
Montini G,
|
||
Consonni D,
|
||
Cugno M;
|
||
HUS-ItalKid Network.</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2024 May;37(4):1017-1026.
|
||
Epub 2024 Jan 27
|
||
doi: 10.1007/s40620-023-01873-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38280096" target="_blank">38280096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37202305">Kidney Transplant Outcomes in Patients with Atypical Hemolytic Uremic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balwani MR,
|
||
Pasari AS,
|
||
Gurjar P,
|
||
Bhawane A,
|
||
Bawankule C,
|
||
Tolani P,
|
||
Kashiv P,
|
||
Dubey S,
|
||
Katekhaye VM</span><br />
|
||
<span class="medgenPMjournal">Transplant Proc</span>
|
||
2023 Jun;55(5):1312-1315.
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Epub 2023 May 16
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atypical%20hemolytic-uremic%20syndrome%20with%20I%20factor%20anomaly%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/30393246">Pathogenesis of Atypical Hemolytic Uremic Syndrome.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28056875">Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23307876">Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21902819">Atypical hemolytic uremic syndrome.</a></div>
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Bresin E,
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Mossali C,
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Pianetti G,
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Gamba S,
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Daina E,
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Fenili C,
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Castelletti F,
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Sorosina A,
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Piras R,
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Donadelli R,
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Maranta R,
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van der Meer I,
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Conway EM,
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Zipfel PF,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atypical%20hemolytic-uremic%20syndrome%20with%20I%20factor%20anomaly%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38280096">Outcome of atypical hemolytic uremic syndrome: role of triggers and complement abnormalities in the response to C5 inhibition.</a></div>
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Cresseri D,
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Capone V,
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Porcaro L,
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Amico V,
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Tangredi M,
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<span class="bold">PMID: </span><a href="/pubmed/38280096" target="_blank">38280096</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/30393246">Pathogenesis of Atypical Hemolytic Uremic Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida Y,
|
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Kato H,
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Ikeda Y,
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Nangaku M</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/26156042">Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ito N,
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Hataya H,
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Saida K,
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Amano Y,
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Hidaka Y,
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Motoyoshi Y,
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Ohta T,
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Yoshida Y,
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Terano C,
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Iwasa T,
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Kubota W,
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Takada H,
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Hara T,
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Fujimura Y,
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Ito S</span><br />
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||
<div class="nl"><a target="_blank" href="/pubmed/20595690">Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noris M,
|
||
Caprioli J,
|
||
Bresin E,
|
||
Mossali C,
|
||
Pianetti G,
|
||
Gamba S,
|
||
Daina E,
|
||
Fenili C,
|
||
Castelletti F,
|
||
Sorosina A,
|
||
Piras R,
|
||
Donadelli R,
|
||
Maranta R,
|
||
van der Meer I,
|
||
Conway EM,
|
||
Zipfel PF,
|
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Goodship TH,
|
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Remuzzi G</span><br />
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
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2010 Oct;5(10):1844-59.
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Epub 2010 Jul 1
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<span class="bold">PMID: </span><a href="/pubmed/20595690" target="_blank">20595690</a><a href="/pmc/articles/PMC2974386" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atypical%20hemolytic-uremic%20syndrome%20with%20I%20factor%20anomaly%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 (23)</a></div></div>
|
||
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|
||
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2752039%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (33)</a></li>
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<li><a href="/gtr/tests?term=C2752039%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (47)</a></li>
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<li><a href="/gtr/tests?term=C2752039%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2752039%5bDISCUI%5d" target="_blank">See all (53)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Atypical+hemolytic-uremic+syndrome+3/7755" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hemolytic_uremic_syndrome_atypical_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Atypical%20hemolytic-uremic%20syndrome%20with%20I%20factor%20anomaly" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18553/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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