A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13

Meyer, Sara C; Jeddi, Ramzi; Meddeb, Balkis; Gouider, Emna; Lämmle, Bernhard; Kremer Hovinga, Johanna A (2008). 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, 87(8), pp. 663-6. Berlin: Springer 10.1007/s00277-008-0496-6

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory

UniBE Contributor:

Meyer, Sara Christina; Lämmle, Bernhard and Kremer Hovinga, Johanna Anna

ISSN:

0939-5555

ISBN:

18443791

Publisher:

Springer

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 15:02

Last Modified:

04 May 2014 23:18

Publisher DOI:

10.1007/s00277-008-0496-6

PubMed ID:

18443791

Web of Science ID:

000257200500008

URI:

https://boris.unibe.ch/id/eprint/26910 (FactScience: 97200)

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