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<meta name="keywords" content="C0024790, acquired paroxysmal nocturnal hemoglobinuria, disease or syndrome, hemoglobinuria, nocturnal paroxysmal, hemoglobinuria, paroxysmal nocturnal, hereditary paroxysmal nocturnal hemoglobinuria, inherited paroxysmal nocturnal hemoglobinuria, marchiafava micheli syndrome, marchiafava-micheli disease, marchiafava-micheli syndrome, nocturnal paroxysmal hemoglobinuria, paroxysmal hemoglobinuria, paroxysmal hemoglobinuria, nocturnal, paroxysmal nocturnal haemoglobinuria, paroxysmal nocturnal hemoglobinuria, paroxysmal nocturnal hemoglobinuria (pnh), pnh, pnh - paroxysmal nocturnal hemoglobinuria, syndrome, marchiafava-micheli, 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="Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired (not inherited) disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infections; and platelets (thrombocytes), which are involved in blood clotting. PNH can occur at any age, although it is most often diagnosed in young adulthood.\n\nPeople with PNH have sudden, recurring episodes of symptoms (paroxysmal symptoms), which may be triggered by stresses on the body, such as infections or physical exertion. During these episodes, red blood cells are broken down earlier than they should be (hemolysis). Affected individuals may pass dark-colored urine because of the presence of hemoglobin, the oxygen-carrying protein in blood. The abnormal presence of hemoglobin in the urine is called hemoglobinuria. In many, but not all cases, hemoglobinuria is most noticeable early in the morning, upon passing urine that has accumulated in the bladder during the night (nocturnal).\n\nThe premature breakdown of red blood cells results in a shortage of these cells in the blood (hemolytic anemia), which can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate (tachycardia). People with PNH may also be prone to infections because of a shortage of white blood cells (leukopenia).\n\nAbnormal platelets associated with PNH can cause problems in the blood clotting process. As a result, people with this disorder may experience abnormal blood clotting (thrombosis), especially in large abdominal veins; or, less often, episodes of severe bleeding (hemorrhage).\n\nIndividuals with PNH are at increased risk of developing cancer in blood-forming cells (leukemia). In some cases, people who have or have been treated for another blood disease called aplastic anemia may develop PNH. In a small number of affected individuals, the signs and symptoms of PNH disappear on their own.\n\nA very rare form of PNH involves abnormal inflammation in addition to the typical features described above. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with this rare form of PNH, the immune response is turned on (activated) abnormally and can cause recurrent aseptic meningitis (which is inflammation of the membranes surrounding the brain and spinal cord that is not related to infection); a red, itchy rash (known as hives or urticaria); joint pain (arthralgia); or inflammatory bowel disease. The inflammatory disorders usually begin earlier than the blood cell problems." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=7471
|
||
ConceptID=C0024790
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Paroxysmal nocturnal hemoglobinuria<span class="h1sub">(PNH)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7471</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.">C0024790</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>Acquired paroxysmal nocturnal hemoglobinuria; PNH</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Paroxysmal nocturnal hemoglobinuria (1963002); Marchiafava-Micheli syndrome (1963002); PNH - paroxysmal nocturnal hemoglobinuria (1963002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004818">HP:0004818</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100244" target="_blank">MONDO:0100244</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/311770" target="_blank">311770</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS300818" target="_blank">PS300818</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=447">ORPHA447</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired (not inherited) disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infections; and platelets (thrombocytes), which are involved in blood clotting. PNH can occur at any age, although it is most often diagnosed in young adulthood.<br /><br />People with PNH have sudden, recurring episodes of symptoms (paroxysmal symptoms), which may be triggered by stresses on the body, such as infections or physical exertion. During these episodes, red blood cells are broken down earlier than they should be (hemolysis). Affected individuals may pass dark-colored urine because of the presence of hemoglobin, the oxygen-carrying protein in blood. The abnormal presence of hemoglobin in the urine is called hemoglobinuria. In many, but not all cases, hemoglobinuria is most noticeable early in the morning, upon passing urine that has accumulated in the bladder during the night (nocturnal).<br /><br />The premature breakdown of red blood cells results in a shortage of these cells in the blood (hemolytic anemia), which can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate (tachycardia). People with PNH may also be prone to infections because of a shortage of white blood cells (leukopenia).<br /><br />Abnormal platelets associated with PNH can cause problems in the blood clotting process. As a result, people with this disorder may experience abnormal blood clotting (thrombosis), especially in large abdominal veins; or, less often, episodes of severe bleeding (hemorrhage).<br /><br />Individuals with PNH are at increased risk of developing cancer in blood-forming cells (leukemia). In some cases, people who have or have been treated for another blood disease called aplastic anemia may develop PNH. In a small number of affected individuals, the signs and symptoms of PNH disappear on their own.<br /><br />A very rare form of PNH involves abnormal inflammation in addition to the typical features described above. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with this rare form of PNH, the immune response is turned on (activated) abnormally and can cause recurrent aseptic meningitis (which is inflammation of the membranes surrounding the brain and spinal cord that is not related to infection); a red, itchy rash (known as hives or urticaria); joint pain (arthralgia); or inflammatory bowel disease. The inflammatory disorders usually begin earlier than the blood cell problems. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0024790[DISCUI]&test_type=Clinical" ref="ncbi_uid=7471">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=7471" target="_blank" href="/omim/311770">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=7471" ref="ncbi_uid=7471">V</a></span></span><span class="TLline">Paroxysmal nocturnal hemoglobinuria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/543648" ref="tree=MeSH" title="MedGen record for Acquired aplastic anemia">Acquired aplastic anemia</a></span><ul><li><span class="matched_ds">Paroxysmal nocturnal hemoglobinuria</span></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=21&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Paroxysmal nocturnal hemoglobinuria</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_393582"><div><strong>Primary CD59 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393582</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.">C2676767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Immunosuppressive treatment may result in some clinical improvement (summary by Nevo et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393582">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_813000"><div><strong>Paroxysmal nocturnal hemoglobinuria 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813000</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.">C3806670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hemolytic anemia that often manifests with hemoglobinuria, abdominal pain, smooth muscle dystonias, fatigue, and thrombosis. The disease results from the expansion of hematopoietic stem cells harboring a mutation in the PIGA gene, which encodes a protein required for the biosynthesis of glycosylphosphatidylinositol (GPI), a lipid moiety that attaches dozens of proteins to the cell surface. Thus, PNH cells are deficient in cell surface GPI-anchored proteins. This deficiency on erythrocytes leads to intravascular hemolysis, since certain GPI-anchored proteins (i.e., CD55 (125240) and CD59 (107271)) normally function as complement regulators. Free hemoglobin released from intravascular hemolysis leads to circulating nitrous oxide depletion and is responsible for many of the clinical manifestations of PNH, including fatigue, erectile dysfunction, esophageal spasm, and thrombosis (review by Brodsky, 2008). Genetic Heterogeneity of Paroxysmal Nocturnal Hemoglobinuria See also PNH2 (615399), which may be caused by germline and somatic mutation in the PIGT gene (610272) on chromosome 20q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813000">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815699"><div><strong>Paroxysmal nocturnal hemoglobinuria 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815699</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.">C3809369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815699">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paroxysmal nocturnal hemoglobinuria 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paroxysmal nocturnal hemoglobinuria 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393582" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary CD59 deficiency</a></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/37763731">Paroxysmal Nocturnal Hemoglobinuria: Biology and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Perez C,
|
||
Guarnera L,
|
||
Williams ND,
|
||
Visconte V</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2023 Sep 6;59(9)
|
||
doi: 10.3390/medicina59091612.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37763731" target="_blank">37763731</a><a href="/pmc/articles/PMC10535188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35699625">Paroxysmal nocturnal hemoglobinuria: advances in the understanding of pathophysiology, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szlendak U,
|
||
Budziszewska B,
|
||
Spychalska J,
|
||
Drozd-Sokołowska J,
|
||
Patkowska E,
|
||
Nowak J</span><br />
|
||
<span class="medgenPMjournal">Pol Arch Intern Med</span>
|
||
2022 Jun 29;132(6)
|
||
Epub 2022 Jun 6
|
||
doi: 10.20452/pamw.16271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35699625" target="_blank">35699625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16051736">Diagnosis and management of paroxysmal nocturnal hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parker C,
|
||
Omine M,
|
||
Richards S,
|
||
Nishimura J,
|
||
Bessler M,
|
||
Ware R,
|
||
Hillmen P,
|
||
Luzzatto L,
|
||
Young N,
|
||
Kinoshita T,
|
||
Rosse W,
|
||
Socié G;
|
||
International PNH Interest Group</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2005 Dec 1;106(12):3699-709.
|
||
Epub 2005 Jul 28
|
||
doi: 10.1182/blood-2005-04-1717.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16051736" target="_blank">16051736</a><a href="/pmc/articles/PMC1895106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22paroxysmal%20nocturnal%20hemoglobinuria%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 (135)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_ParoxysmalNocturnalHaemoglobinuria.pdf" target="_blank">Orphanet, Paroxysmal Nocturnal Haemoglobinuria, 2008</a></h3>
|
||
</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/38477987">Oral Iptacopan Monotherapy in Paroxysmal Nocturnal Hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peffault de Latour R,
|
||
Röth A,
|
||
Kulasekararaj AG,
|
||
Han B,
|
||
Scheinberg P,
|
||
Maciejewski JP,
|
||
Ueda Y,
|
||
de Castro CM,
|
||
Di Bona E,
|
||
Fu R,
|
||
Zhang L,
|
||
Griffin M,
|
||
Langemeijer SMC,
|
||
Panse J,
|
||
Schrezenmeier H,
|
||
Barcellini W,
|
||
Mauad VAQ,
|
||
Schafhausen P,
|
||
Tavitian S,
|
||
Beggiato E,
|
||
Chew LP,
|
||
Gaya A,
|
||
Huang WH,
|
||
Jang JH,
|
||
Kitawaki T,
|
||
Kutlar A,
|
||
Notaro R,
|
||
Pullarkat V,
|
||
Schubert J,
|
||
Terriou L,
|
||
Uchiyama M,
|
||
Wong Lee Lee L,
|
||
Yap ES,
|
||
Sicre de Fontbrune F,
|
||
Marano L,
|
||
Alashkar F,
|
||
Gandhi S,
|
||
Trikha R,
|
||
Yang C,
|
||
Liu H,
|
||
Kelly RJ,
|
||
Höchsmann B,
|
||
Kerloeguen C,
|
||
Banerjee P,
|
||
Levitch R,
|
||
Kumar R,
|
||
Wang Z,
|
||
Thorburn C,
|
||
Maitra S,
|
||
Li S,
|
||
Verles A,
|
||
Dahlke M,
|
||
Risitano AM</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Mar 14;390(11):994-1008.
|
||
doi: 10.1056/NEJMoa2308695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38477987" target="_blank">38477987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35154088">Insights Into the Emergence of Paroxysmal Nocturnal Hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colden MA,
|
||
Kumar S,
|
||
Munkhbileg B,
|
||
Babushok DV</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:830172.
|
||
Epub 2022 Jan 28
|
||
doi: 10.3389/fimmu.2021.830172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35154088" target="_blank">35154088</a><a href="/pmc/articles/PMC8831232" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33730455">Pegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hillmen P,
|
||
Szer J,
|
||
Weitz I,
|
||
Röth A,
|
||
Höchsmann B,
|
||
Panse J,
|
||
Usuki K,
|
||
Griffin M,
|
||
Kiladjian JJ,
|
||
de Castro C,
|
||
Nishimori H,
|
||
Tan L,
|
||
Hamdani M,
|
||
Deschatelets P,
|
||
Francois C,
|
||
Grossi F,
|
||
Ajayi T,
|
||
Risitano A,
|
||
Peffault de Latour R</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2021 Mar 18;384(11):1028-1037.
|
||
doi: 10.1056/NEJMoa2029073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33730455" target="_blank">33730455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33512400">How I treat paroxysmal nocturnal hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brodsky RA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Mar 11;137(10):1304-1309.
|
||
doi: 10.1182/blood.2019003812.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33512400" target="_blank">33512400</a><a href="/pmc/articles/PMC7955407" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16051736">Diagnosis and management of paroxysmal nocturnal hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parker C,
|
||
Omine M,
|
||
Richards S,
|
||
Nishimura J,
|
||
Bessler M,
|
||
Ware R,
|
||
Hillmen P,
|
||
Luzzatto L,
|
||
Young N,
|
||
Kinoshita T,
|
||
Rosse W,
|
||
Socié G;
|
||
International PNH Interest Group</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2005 Dec 1;106(12):3699-709.
|
||
Epub 2005 Jul 28
|
||
doi: 10.1182/blood-2005-04-1717.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16051736" target="_blank">16051736</a><a href="/pmc/articles/PMC1895106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%20nocturnal%20hemoglobinuria%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 (525)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35699625">Paroxysmal nocturnal hemoglobinuria: advances in the understanding of pathophysiology, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szlendak U,
|
||
Budziszewska B,
|
||
Spychalska J,
|
||
Drozd-Sokołowska J,
|
||
Patkowska E,
|
||
Nowak J</span><br />
|
||
<span class="medgenPMjournal">Pol Arch Intern Med</span>
|
||
2022 Jun 29;132(6)
|
||
Epub 2022 Jun 6
|
||
doi: 10.20452/pamw.16271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35699625" target="_blank">35699625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33512400">How I treat paroxysmal nocturnal hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brodsky RA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Mar 11;137(10):1304-1309.
|
||
doi: 10.1182/blood.2019003812.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33512400" target="_blank">33512400</a><a href="/pmc/articles/PMC7955407" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28189179">Unusual Anemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daughety MM,
|
||
DeLoughery TG</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2017 Mar;101(2):417-429.
|
||
Epub 2016 Dec 10
|
||
doi: 10.1016/j.mcna.2016.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28189179" target="_blank">28189179</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25237200">Paroxysmal nocturnal hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brodsky RA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2014 Oct 30;124(18):2804-11.
|
||
Epub 2014 Sep 18
|
||
doi: 10.1182/blood-2014-02-522128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25237200" target="_blank">25237200</a><a href="/pmc/articles/PMC4215311" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16051736">Diagnosis and management of paroxysmal nocturnal hemoglobinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parker C,
|
||
Omine M,
|
||
Richards S,
|
||
Nishimura J,
|
||
Bessler M,
|
||
Ware R,
|
||
Hillmen P,
|
||
Luzzatto L,
|
||
Young N,
|
||
Kinoshita T,
|
||
Rosse W,
|
||
Socié G;
|
||
International PNH Interest Group</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2005 Dec 1;106(12):3699-709.
|
||
Epub 2005 Jul 28
|
||
doi: 10.1182/blood-2005-04-1717.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16051736" target="_blank">16051736</a><a href="/pmc/articles/PMC1895106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%20nocturnal%20hemoglobinuria%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 (746)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38477987">Oral Iptacopan Monotherapy in Paroxysmal Nocturnal Hemoglobinuria.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34889408">When does a PNH clone have clinical significance?</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33730455">Pegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hillmen P,
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<div class="portlet_content ln"><span class="medgenPMauthor">Sun L,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%20nocturnal%20hemoglobinuria%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 (300)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33730455">Pegcetacoplan versus Eculizumab in Paroxysmal Nocturnal Hemoglobinuria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hillmen P,
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Szer J,
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Röth A,
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<div class="nl"><a target="_blank" href="/pubmed/30510080">Ravulizumab (ALXN1210) vs eculizumab in adult patients with PNH naive to complement inhibitors: the 301 study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee JW,
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Sicre de Fontbrune F,
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<div class="nl"><a target="_blank" href="/pubmed/11130999">Complement deficiencies.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%20nocturnal%20hemoglobinuria%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 (367)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/39453029">Safety and efficacy of danicopan in patients with paroxysmal nocturnal hemoglobinuria: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Muvaffak E,
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Mokresh ME,
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<span class="bold">PMID: </span><a href="/pubmed/39453029" target="_blank">39453029</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37072660">Complement Inhibition in Paroxysmal Nocturnal Hemoglobinuria (PNH): A Systematic Review and Expert Opinion from Central Europe on Special Patient Populations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bodó I,
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Amine I,
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Kulagin A,
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<div class="nl"><a target="_blank" href="/pubmed/33902068">Efficacy and Safety of Eculizumab for Paroxysmal Nocturnal Hemoglobinuria: A Systematic Review and Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhou S,
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Dong X,
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Chen C,
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<div class="nl"><a target="_blank" href="/pubmed/33687995">Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garred P,
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<div class="nl"><a target="_blank" href="/pubmed/25356860">Eculizumab for treating patients with paroxysmal nocturnal hemoglobinuria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Martí-Carvajal AJ,
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Anand V,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%20nocturnal%20hemoglobinuria%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
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||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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</div>
|
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</div>
|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<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>
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