Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report

Autor:	Arunkumar Subbiah, Sanjay K. Agarwal, Dipankar Bhowmik, Kishore K Ariga, Sandeep Mahajan, Soumita Bagchi, Raj Kumar Yadav
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	Novel mutation 030232 urology & nephrology Thrombotic thrombocytopenic purpura Case Report Congenital Thrombotic Thrombocytopenic Purpura 030230 surgery medicine.disease_cause Bioinformatics lcsh:RC870-923 Genetic analysis secondary focal segmental glomerulo sclerosis 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases Rare case medicine thrombotic thrombocytopenic purpura Thrombospondin Mutation business.industry medicine.disease Secondary Focal Segmental Glomerulosclerosis plasma infusion lcsh:Diseases of the genitourinary system. Urology ADAMTS13 Nephrology business
Zdroj:	Indian Journal of Nephrology, Vol 29, Iss 4, Pp 295-297 (2019) Indian Journal of Nephrology
ISSN:	1998-3662 0971-4065
Popis:	Hereditary thrombotic thrombocytopenic purpura (TTP) is a genetic condition caused by mutations in ADAMTS13 gene, leading to very low levels of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type I domain 13) activity. It is a rare condition associated with multiple reported mutations. Here, we describe a case of hereditary TTP with a compound novel heterozygous mutation along with secondary focal segmental glomerulosclerosis. The patient responded clinically to plasma infusions with resolution of thrombocytopenia, stabilization of renal function, and control of blood pressures. Genetic analysis of the entire family helped in the characterization of the inheritance of this mutation. Our case illustrates the need for focused genetic analysis in a subset of patients presenting with features of TTP to decide the therapeutic plan and manage accordingly.
Databáze:	OpenAIRE
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