التفاصيل البيبلوغرافية
| العنوان: |
A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13. |
| المؤلفون: |
Meyer, Sara C., Jeddi, Ramzi, Meddeb, Balkis, Gouider, Emna, Lämmle, Bernhard, Hovinga, Johanna A. Kremer, Lämmle, Bernhard, Kremer Hovinga, Johanna A |
| المصدر: |
Annals of Hematology; Aug2008, Vol. 87 Issue 8, p663-666, 4p, 1 Graph |
| مصطلحات موضوعية: |
THROMBOTIC thrombocytopenic purpura, MICROCIRCULATION disorders, VON Willebrand factor, DISEASE risk factors, ACUTE kidney failure |
| مصطلحات جغرافية: |
AFRICA |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
|
Copyright of Annals of Hematology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
