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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13
Annals of Hematology, Volume 87, No. 8, Year 2008
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Description
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. © Springer-Verlag 2008.
Authors & Co-Authors
Meyer, Sara C.
Switzerland, Bern
University of Bern
Jeddi, Ramzi
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Aziza Othmana
Meddeb, Balkis
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Aziza Othmana
Gouider, Emna
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Aziza Othmana
Lämmle, Bernhard
Switzerland, Bern
University of Bern
Kremer Hovinga, Johanna A.
Switzerland, Bern
University of Bern
Statistics
Citations: 26
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1007/s00277-008-0496-6
ISSN:
09395555
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases