Lau J Y, Lai C L, Wu P C, Pan H Y, Lin H J, Todd D
Department of Medicine, University of Hong Kong, Queen Mary Hospital.
Q J Med. 1990 Jun;75(278):597-605.
Thirty-seven Chinese patients fulfilling the criteria for Wilson's disease seen during a 35-year period were reviewed. Males and females were equally affected. Twenty-two patients were symptomatic and 15 asymptomatic; most of them presented before the third decade. Thirty-one per cent of the relatives screened showed evidence of disease, and parents were rarely affected (13 per cent). Half of the adult symptomatic females presented with primary amenorrhoea. Liver laboratory tests were abnormal in only 50 per cent of patients, with gamma-glutamyltranspeptidase being the most sensitive index. Renal disease was infrequent. Serum caeruloplasmin level was the single biochemical parameter of prognostic significance (p = 0.0001). Seventy per cent of the symptomatic patients showed an improvement after treatment with penicillamine.
回顾了35年间确诊为威尔逊氏病的37例中国患者。男性和女性受影响程度相同。22例患者有症状，15例无症状；大多数患者在第三个十年之前发病。筛查的亲属中有31%显示有患病迹象，父母很少受影响（13%）。成年有症状女性中有一半表现为原发性闭经。仅50%的患者肝脏实验室检查异常，γ-谷氨酰转肽酶是最敏感的指标。肾脏疾病不常见。血清铜蓝蛋白水平是具有预后意义的单一生化参数（p = 0.0001）。70%有症状的患者在用青霉胺治疗后病情有所改善。
