Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene
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 pro...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/270419 |
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| _version_ | 1832551659457216512 |
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| author | Jun Muratsu Atsuyuki Morishima Kazuhiro Mizoguchi Keiji Ataka Hiroshi Yamamoto Xinping Fan Toshiyuki Miyata Katsuhiko Sakaguchi |
| author_facet | Jun Muratsu Atsuyuki Morishima Kazuhiro Mizoguchi Keiji Ataka Hiroshi Yamamoto Xinping Fan Toshiyuki Miyata Katsuhiko Sakaguchi |
| author_sort | Jun Muratsu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-34fbc13b42a64bbab73d5e049641c289 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-34fbc13b42a64bbab73d5e049641c2892025-02-03T06:00:53ZengWileyCase Reports in Medicine1687-96271687-96352013-01-01201310.1155/2013/270419270419Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C GeneJun Muratsu0Atsuyuki Morishima1Kazuhiro Mizoguchi2Keiji Ataka3Hiroshi Yamamoto4Xinping Fan5Toshiyuki Miyata6Katsuhiko Sakaguchi7Department of Nephrology and Hypertension, Sumitomo Hospital, 5-3-20 Nakanoshima, Kitaku, Osaka 530-0005, JapanDepartment of Nephrology and Hypertension, Sumitomo Hospital, 5-3-20 Nakanoshima, Kitaku, Osaka 530-0005, JapanDepartment of Cardiovascular Surgery, Sumitomo Hospital, 5-3-20 Nakanoshima, Kitaku, Osaka 530-0005, JapanDepartment of Cardiovascular Surgery, Sumitomo Hospital, 5-3-20 Nakanoshima, Kitaku, Osaka 530-0005, JapanDepartment of Radiology, Sumitomo Hospital, 5-3-20 Nakanoshima, Kitaku, Osaka 530-0005, JapanDepartment of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka 565-8565, JapanDepartment of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka 565-8565, JapanDepartment of Nephrology and Hypertension, Sumitomo Hospital, 5-3-20 Nakanoshima, Kitaku, Osaka 530-0005, JapanA 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.http://dx.doi.org/10.1155/2013/270419 |
| spellingShingle | Jun Muratsu Atsuyuki Morishima Kazuhiro Mizoguchi Keiji Ataka Hiroshi Yamamoto Xinping Fan Toshiyuki Miyata Katsuhiko Sakaguchi Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene Case Reports in Medicine |
| title | Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene |
| title_full | Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene |
| title_fullStr | Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene |
| title_full_unstemmed | Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene |
| title_short | Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene |
| title_sort | budd chiari syndrome with multiple thrombi due to a familial arg42ser mutation in the protein c gene |
| url | http://dx.doi.org/10.1155/2013/270419 |
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