التفاصيل البيبلوغرافية
| العنوان: |
Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene. |
| المؤلفون: |
Rank, Cecilie Utke1, Kremer Hovinga, Johanna2, Taleghani, Magnus Mansouri2, Lämmle, Bernhard2, Gøtze, Jens Peter3, Nielsen, Ove Juul1 |
| المصدر: |
European Journal of Haematology. Feb2014, Vol. 92 Issue 2, p168-171. 4p. |
| مصطلحات موضوعية: |
*CONGENITAL disorders, *THROMBOTIC thrombocytopenic purpura, *GENETIC mutation, *VON Willebrand factor, *DISINTEGRINS, *METALLOPROTEINASES, *THROMBOSPONDIN-1 |
| مستخلص: |
Upshaw- Schulman syndrome ( USS) is due to severe congenital deficiency of von Willebrand factor ( VWF)-cleaving protease ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 domains, nr 13) activity resulting in the presence of unusually large forms of VWF in the circulation, causing intravascular platelet clumping and thrombotic microangiopathy. Our patient, a 26-year-old man, had attacks of thrombotic thrombocytopenic purpura ( TTP) with thrombocytopenia and a urine dipstick positive for hemoglobin (4+), often as the only sign of hemolytic activity. He had ADAMTS13 activity of <1% of normal plasma without the presence of inhibitors of ADAMTS13. ADAMTS13 deficiency was caused by two new mutations of the ADAMTS13 gene: a deletion of a single nucleotide in exon17 (c. 2042 delA) leading to a frameshift ( K681 C fs X16), and a missense mutation in exon 25 (c.3368 G> A) leading to p.R1123H. This case report confirms the importance of the analysis of the ADAMTS13 activity and its inhibitor in patients who have episodes of TTP, with a very low platelet count and sometimes without the classic biochemical signs of hemolysis. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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