Current state of Wilson disease patients in central Japan

フォーマット:

論文

責任表示:

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

言語:

英語

出版情報:

Japanese Society of Internal Medicine = 日本内科学会, 2010-04-30

著者名:

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

続きを見る

掲載情報:

Internal Medicine

ISSN:

0918-2918      

巻:

49

通号:

9

開始ページ:

809

終了ページ:

815

バージョン:

publisher

概要:

金沢大学医薬保健研究域医学系<br />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 Internationa … l 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. 続きを見る

URL:

http://hdl.handle.net/2297/24280