Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene
Joint Authors
Morishima, Atsuyuki
Muratsu, Jun
Miyata, Toshiyuki
Fan, Xinping
Yamamoto, Hiroshi
Mizoguchi, Kazuhiro
Sakaguchi, Katsuhiko
Ataka, Keiji
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-10-24
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Muratsu, Jun& Morishima, Atsuyuki& Mizoguchi, Kazuhiro& Ataka, Keiji& Yamamoto, Hiroshi& Fan, Xinping…[et al.]. 2013. Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene. Case Reports in Medicine،Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-459096
Modern Language Association (MLA)
Muratsu, Jun…[et al.]. Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene. Case Reports in Medicine No. 2013 (2013), pp.1-6.
https://search.emarefa.net/detail/BIM-459096
American Medical Association (AMA)
Muratsu, Jun& Morishima, Atsuyuki& Mizoguchi, Kazuhiro& Ataka, Keiji& Yamamoto, Hiroshi& Fan, Xinping…[et al.]. Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene. Case Reports in Medicine. 2013. Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-459096
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-459096