A case of congenital thrombotic thrombocytopenic purpura presenting with renal dysfunction in adulthood caused by a novel compound heterozygous ADAMTS13 mutation.

Abstract excerpt

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive genetic disorder caused by mutations in the ADAMTS13 gene. We report a 36-year-old male cTTP patient with three compound heterozygous mutations. The patient was admitted for acute thrombocytopenia, with a 5-year history of chronic thrombocytopenia and 3 months of renal dysfunction. Initially diagnosed with immune thrombocytopenia,...

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