关键词: 肝豆状核变性, 临床特征, 预后, 儿童, 成人

Abstract: Objective The aim of this study was to retrospectively summarize the clinical feature and prognosis of adolescent and adult patients with Wilson's disease (WD). Methods 79 patients with WD, including 42 children and 37 adult persons, were encountered in Beijing Ditan Hospital, Capital Medical University between 2009 and 2019, and the clinical features, laboratory tests, complications and prognosis were analyzed. Results The age of onset ranged from 2 to 64 years, with an average age of (20.8±15.9) years; abnormal serum liver function tests as the first sign was found in 59.5% of adolescent patients, and the gastrointestinal symptoms was found in 32.4% of adult patients (P<0.05); the incidence of cirrhosis, hypersplenism, ascites, pleural effusion, hepatorenal syndrome and infection in the adult patients were 91.9%, 67.6%, 78.4%, 24.3%, 13.5% and 40.5%, significantly higher than 40%, 19%, 21.4%, 4.8%, 0% and 9.5% (P<0.05) in adolescent patients; serum ceruloplasmin and total bilirubin levels in children patients were significantly lower than in the adults group (P<0.05); the neuropsychiatric abnormality as the most common initial symptom in 13 patients with mixed clinical type was 84.6%, the positive rates of Kayser-Fleischer ring and the incidence of hypersplenism were 92.3% and 76.9%, significantly higher than 54.5% and 34.8% (P<0.05) in 66 patients with hepatic type; the period from disease onset to the end of follow-up or death was 372.0±60.0 mon, and 19 patients lost; out the 60 patients followed-up, 53 patients (83.3%) survived, and the 10-year cumulative survival rate was 94.4±4.0%. Conclusions The onset of WD could occur at any age, and the incidence of cirrhosis increases in adult patients. The early diagnosed patients with WD having long-term standard treatment might have a better prognosis.

Key words: Wilson's disease, Clinical feature, Prognosis, Adolescent, Adult