Clinical features of Wilson disease: Analysis of 10 cases |
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Authors: | Yasuaki Takeyama Keiji Yokoyama Kazuhide Takata Takashi Tanaka Kunitoshi Sakurai Teruo Matsumoto Hideyuki Iwashita Shu‐ichi Ueda Genryu Hirano Takayuki Hanano Hidetoshi Nakane Daisuke Morihara Shinya Nishizawa Makoto Yoshikane Akira Anan Shigeru Kakumitsu Yuji Kitamura Masaharu Sakamoto Makoto Irie Kaoru Iwata Satoshi Shakado Tetsuro Sohda Hiroshi Watanabe Shinichi Hirose Hideyuki Hayashi Tomoaki Noritomi Yuichi Yamashita Shotaro Sakisaka |
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Affiliation: | 1. Departments of Gastroenterology and Medicine;2. Department of Hepatology, Japanese Red Cross Fukuoka Hospital;3. Department of Medicine, Hakujyuji Hospital;4. Department of Gastroenterology, Fukuoka City Medical Association Hospital;5. Department of Internal Medicine, Fukuseikai Hospital, Fukuoka, Japan;6. The Division of Advanced Clinical Research for Viral Hepatitis and Liver Cancer, Fukuoka University Faculty of Medicine;7. Pediatrics;8. Ophthalmology;9. Surgery |
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Abstract: | Aim: The diagnosis of Wilson disease is based on the results of several clinical and biochemical tests. This study aimed to clarify the clinical features and spectrum of Wilson disease, including severe Wilson disease. Methods: Between 1985 and 2009, 10 patients with clinical, biochemical or histological evidence of Wilson disease were either diagnosed or had a previously established diagnosis confirmed at Fukuoka University Hospital. Severe Wilson disease was defined by a serum prothrombin time ratio of more than 1.5 or serum prothrombin activity of less than 50%. The 10 Wilson disease patients were divided into two groups, one containing three non‐severe patients and the other containing seven severe patients, and the biochemical features of the patients in these two groups were compared. Results: The mean age at diagnosis was 21.5 ± 11.7 years (range, 7–39). Decreased serum ceruloplasmin, enhanced 24‐h urinary copper excretion, presence of Kayser–Fleischer rings and histological signs of chronic liver damage were confirmed in 100%, 100%, 66.7% and 100% of patients, respectively. Severe Wilson disease patients had higher levels of serum ceruloplasmin and serum copper (P < 0.05, P < 0.05, respectively) than non‐severe patients. Conclusion: In severe Wilson disease patients, the serum ceruloplasmin and serum copper levels were higher than those in non‐severe Wilson disease patients. |
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Keywords: | esophageal varix liver failure liver transplantation Wilson disease Wilson disease diagnostic score Wilson disease prognostic score |
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