A Novel Homozygous Missense ADAMTS13 Mutation Y658C in a Patient with Recurrent Thrombotic Thrombocytopenic Purpura

作者：Lee Seon Ho; Park Jae Hoo; Park Sang Kyu; Lee Eun Hee; Choi Jung In; Visentin Gian Paolo; Park Tae Sung; Oh Seung Hwan^*; Kim Sung Ryul

来源：Annals of Clinical and Laboratory Science, 2011, 41(3): 273-276.

• ADAMTS13
• thrombotic thrombocytopenic purpura
• missense mutation
• pregnancy

Thrombotic thrombocytopenic purpura (TTP) is a devastating systemic disorder that is characterized by microangiopathic hemolytic anemia, thrombocytopenia, neurological dysfunction, and renal failure. In the hereditary form of TTP, severe deficiency of ADAMTS13, a plasma metalloprotease that cleaves von Willebrand factor, is associated with the development of this disorder. A 34-year-old woman was diagnosed with TTP due to severely reduced ADAMTS13 activity; clinical manifestations resolved only by repeated total plasma exchanges or transfusion. Homozygous and heterozygous Y658C (c.1973A>G) alleles were detected in the patient and her child with severe and mild ADAMTS13 deficiencies, respectively. Herein, we report a novel missense mutation Y658C (c.1973A>G) on exon 17 of ADAMTS13 and discuss its clinical implications.

• 出版日期2011