Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene | Zendy

Jun Muratsu | Zendy; Atsuyuki Morishima | Zendy; Kazuhiro Mizoguchi | Zendy; Keiji Ataka | Zendy; Hiroshi Yamamoto | Zendy; Xinping Fan | Zendy; Toshiyuki Miyata | Zendy; Katsuhiko Sakaguchi | Zendy

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Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene

Author(s) -

Jun Muratsu,

Atsuyuki Morishima,

Kazuhiro Mizoguchi,

Keiji Ataka,

Hiroshi Yamamoto,

Xinping Fan,

Toshiyuki Miyata,

Katsuhiko Sakaguchi

Publication year - 2013

Publication title -

case reports in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.2

H-Index - 20

eISSN - 1687-9627

pISSN - 1687-9635

DOI - 10.1155/2013/270419

Subject(s) - medicine , proband , protein c , mutation , thrombus , exon , thrombosis , protein s , budd–chiari syndrome , gene , genetics , biology , inferior vena cava

A 34-year-old Japanese woman was admitted to our hospital complaining of developing bilateral pedal edema. Imaging studies led to a diagnosis of Budd-Chiari syndrome combined with internal jugular vein thrombus. We investigated the cause of thrombosis and found that the anticoagulant activity of protein C was decreased. Genetic analysis showed the presence of a c.125C>A (Arg42Ser) substitution in the protein C gene ( PROC ) of the proband, which generates an Arg42Ser mutation that replaces the scissile bond Arg42-Ala43 normally cleaved by a furin-like processing protease. Her father and younger brother also carried this mutation, although they had no evidence of thrombosis.

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