| Genetics and genetic testing in hemolytic uremic syndrome/thrombotic thrombocytopenic purpura. | |
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MedLine Citation:
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PMID: 20807612 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP) are rare diseases that manifest with thrombocytopenia and microangiopathic hemolytic anemia accompanied by renal and neurologic dysfunction. Most childhood cases of HUS are caused by Shiga-toxin-producing bacteria and have a good prognosis. The other form, atypical HUS (aHUS), accounts for 10% of cases. Prognosis of aHUS and TTP has changed over time from fatal disorders to 60% to 80% survival in the plasma therapy era. In the past 10 years the molecular bases of aHUS and TTP have been discovered that mostly lead to uncontrolled activation of the complement system in aHUS and to abnormal von Willebrand factor processing in TTP. Identification of the underlying abnormality in an individual patient can provide prognostically significant information in predicting long-term outcome, response to therapies, and transplant outcome. It also paves the way for the use of specific new therapies in the near future. |
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Authors:
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Marina Noris; Giuseppe Remuzzi |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Seminars in nephrology Volume: 30 ISSN: 1558-4488 ISO Abbreviation: Semin. Nephrol. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-09-02 Completed Date: 2011-01-18 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 8110298 Medline TA: Semin Nephrol Country: United States |
Other Details:
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Languages: eng Pagination: 395-408 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Aldo e Cele Daccò, Villa Camozzi, Ranica, Bergamo, Italy. marina.noris@marionegri.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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ADAM Proteins
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genetics* Complement Activation / genetics* Complement System Proteins / genetics Female Hemolytic-Uremic Syndrome / diagnosis, genetics*, physiopathology Humans Male Mutation / genetics Purpura, Thrombotic Thrombocytopenic / diagnosis, genetics*, physiopathology |
| Grant Support | |
ID/Acronym/Agency:
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GGP09075//Telethon |
| Chemical | |
Reg. No./Substance:
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9007-36-7/Complement System Proteins; EC 3.4.24.-/ADAM Proteins; EC 3.4.24.-/ADAMTS13 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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