ترومبوسيتوپني ترومبوتيك مادرزادي در پسري نه ساله با شش سال تاخير تشخيصي

Title

Congenital Thrombotic Thrombocytopenic Purpura (CTTP) in Nine years old boy with Six years delayed in diagnosis

English Abstract

Congenital thrombotic thrombocytopenic purpura (CTTP) is a rare disease due to mutations in genes that reduce the production of ADAMTS 13 (Metalloproteinease). Metalloproteinease deficiency causes large multimeres of Von Willebrand factor VWF not going to broken and result in anemia and thrombocytopenia (Microangiopatic hemolytic anemia) with renal involvement. The case is a 9 years old boy who suffers from anemia, thrombocytopenia since age three with some courses of hematuria, BUN and creatinine rising period. He had different diagnosis such as ITP (Immune thrombocytopenic purpura), Fanconi anemia, autoimmune hemolytic anemia, Evans syndrome and has been taken various immunosuppressive therapy and frequent blood transfusion. After 6 years following HUS like crisis and due to congenital deficiency of ADAMs13 and normal antibody against it he was diagnosed as a CTTP and treated with regular injections FFP .

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