| A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13. | |
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MedLine Citation:
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PMID: 18443791 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hereditary thrombotic thrombocytopenic purpura (TTP) is a rare disorder characterized by occlusive microvascular thrombosis, consumptive thrombocytopenia, and microangiopathic hemolytic anemia. Homozygous or compound heterozygous mutations in the ADAMTS13 gene result in a congenital severe ADAMTS13 deficiency and subsequent accumulation of ultra-large von Willebrand factor multimers, which tend to form platelet thrombi in the microcirculation. We report a first case of congenital TTP on the African continent with a new, homozygous mutation in the metalloprotease domain of ADAMTS13. An initially oligo-symptomatic presentation was followed by acute exacerbation with ischemic stroke and acute renal failure highlighting the severity of this syndrome. |
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Authors:
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Sara C Meyer; Ramzi Jeddi; Balkis Meddeb; Emna Gouider; Bernhard Lämmle; Johanna A Kremer Hovinga |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-04-29 |
Journal Detail:
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Title: Annals of hematology Volume: 87 ISSN: 1432-0584 ISO Abbreviation: Ann. Hematol. Publication Date: 2008 Aug |
Date Detail:
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Created Date: 2008-06-27 Completed Date: 2008-10-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9107334 Medline TA: Ann Hematol Country: Germany |
Other Details:
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Languages: eng Pagination: 663-6 Citation Subset: IM |
Affiliation:
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Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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ADAM Proteins
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deficiency,
genetics* Adolescent Consanguinity Humans Male Mutation / genetics Plasma Purpura, Thrombotic Thrombocytopenic / genetics*, therapy Tunisia |
| Chemical | |
Reg. No./Substance:
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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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