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Current state of Wilson disease patients in central Japan
http://hdl.handle.net/2297/24280
http://hdl.handle.net/2297/24280f8241e20-0616-4bc4-b66d-bc9e26af2eaa
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ME-PR-KANEKO-S-809.pdf (423.4 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2017-10-03 | |||||
| タイトル | ||||||
| タイトル | Current state of Wilson disease patients in central Japan | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Tatsumi, Yasuaki
× Tatsumi, Yasuaki× Hattori, Ai× Hayashi, Hisao× Ikoma, Jiro× Kaito, Masahiko× Imoto, Masami× Wakusawa, Shinya× Yano, Motoyoshi× Hayashi, Kazuhiko× Katano, Yoshiaki× Goto, Hidemi× Okada, Toshihide× Kaneko, Shuichi |
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| 提供者所属 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 金沢大学医薬保健研究域医学系 | |||||
| 書誌情報 |
Internal Medicine 巻 49, 号 9, p. 809-815, 発行日 2010-04-30 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 0918-2918 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA10827774 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.2169/internalmedicine.49.2931 | |||||
| 出版者 | ||||||
| 出版者 | Japanese Society of Internal Medicine = 日本内科学会 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Objective This study evaluated the current state of patients with Wilson disease in central Japan. Patients and Methods Between 1999 and 2007, 30 patients were diagnosed as having Wilson disease withan International Diagnostic Score of 4 or more. The phenotypes, genotypes and post-diagnostic courses of these patients were analyzed. Results Twenty-six patients had ATP7B mutations responsible for Wilson disease. Four patients had a single mutant chromosome. There were 2 major mutations of 2333 G>T and 2871 delC (40%), and 6 novel mutations (13%) in our patients. The first clinical manifestation was the hepatic form in 22, neurological form in 5, and hemolysis in 3 patients. The hepatic form was diagnosed around the age of 13 years, followed by neurological complication with a time lag of 9 years. Thus, some patients, especially patients with the neurological form, did not undergo early diagnostic tests including ATP7B analysis. During the post-diagnosis period, 3 patients were hospitalized for recurrent liver disease, and 2 patients committed suicide. One female patient died from acute hepatic failure associated with encephalopathy after fertilization therapy, while 2 male patients recovered from encephalopathy-free, prolonged hepatic failure after noncompliance with drug therapy. The King's Scores for liver transplantation were below the cut-off in both cases. Conclusion To minimize delayed diagnosis, ceruloplasmin determination and ATP7B analysis may be recommended to patients showing hepatic damage of unknown etiology. At gene diagnosis, appropriate management of patients including compliance education and emotional care to prevent suicide might be important. 2010 The Japanese Society of Internal Medicine. © 2010 The Japanese Society of Internal Medicine. | |||||
| 権利 | ||||||
| 権利情報 | Copyright (c) 2010 by The Japanese Society of Internal Medicine | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.jstage.jst.go.jp/article/internalmedicine/49/9/49_809/_article | |||||
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| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.naika.or.jp/ | |||||
