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- Title
A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.
- Authors
Meyer, Sara C.; Jeddi, Ramzi; Meddeb, Balkis; Gouider, Emna; Lämmle, Bernhard; Hovinga, Johanna A. Kremer; Lämmle, Bernhard; Kremer Hovinga, Johanna A
- Abstract
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.
- Subjects
AFRICA; THROMBOTIC thrombocytopenic purpura; MICROCIRCULATION disorders; VON Willebrand factor; DISEASE risk factors; ACUTE kidney failure
- Publication
Annals of Hematology, 2008, Vol 87, Issue 8, p663
- ISSN
0939-5555
- Publication type
journal article
- DOI
10.1007/s00277-008-0496-6