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Year : 2019  |  Volume : 29  |  Issue : 4  |  Page : 295-297

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

Department of Nephrology, All India Institute of Medical Sciences (AIIMS), New Delhi, India

Correspondence Address:
Raj K Yadav
Department of Nephrology, 4th Floor, Teaching Block, AIIMS, New Delhi - 110 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.IJN_241_18

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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.


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Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07