Open AccessNovel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report
Author(s) -
Rohitash Yadav,
Kishore Kumar Ariga,
Arunkumar Subbiah,
Soumita Bagchi,
Sandeep Mahajan,
Dipankar Bhowmik,
Sanjay Kumar Agarwal
Publication year - 2019
Publication title -
indian journal of nephrology/indian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.317
H-Index - 24
eISSN - 1998-3662
pISSN - 0971-4065
DOI - 10.4103/ijn.ijn_241_18
Subject(s) - adamts13 , medicine , thrombotic thrombocytopenic purpura , compound heterozygosity , mutation , thrombospondin , thrombotic microangiopathy , immunology , platelet , genetics , metalloproteinase , gene , matrix metalloproteinase , disease , biology
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.