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报告２０个有阳性家族史的肝豆状核变性（ＷＤ）家系共２０９名成员，其中确诊患者５６例，现存活者３６例。对ＷＤ的临床表现、生化检查、腹部Ｂ超、颅脑电子计算机断层扫描（ＣＴ）、磁共振（ＭＲ）等辅助检查及遗传学、基因诊断等特点进行了探讨，强调要早期对该病进行详细的家系调查，尤其是对先证者的同胞要尽早应用分子生物学技术进行基因诊断，早期检出症状前患者并尽早予以驱铜治疗。同时，对家系中的基因携带者进行甄别，此对开展优生优育有重大意义。
A total of 209 families of hepatolenticular degeneration (WD) were reported in 20 families with positive family history, of which 56 were diagnosed and 36 were alive. On the clinical manifestations of WD, biochemical tests, abdominal B ultrasound, CT scan, magnetic resonance (MR) and other auxiliary examination and genetics, gene diagnosis and other characteristics were discussed, stressed the need for early disease Detailed pedigree investigation, especially for the proband’s compatriots should early application of molecular biology techniques for gene diagnosis, early detection of patients with symptoms and to be driven as soon as possible copper treatment. At the same time, the screening of gene carriers in the family is of great significance to carry out prenatal and postnatal care.