肝豆状核变性的系列研究

SERIES STUDIES OF HEPATOLENTICULAR DEGENERATION

肝豆状核变性（ＷＤ）是一种较为常见的常染色体隐性遗传、铜代谢障碍性疾病。作者从８０年代初开展ＷＤ的研究，至今已对ＷＤ的临床表现、发病机理、病理改变、遗传学、诊断、治疗等各方面进行了系统研究，研究手段从临床总结开始，接着开展生化、病理、影像学研究，进而采用细胞培养、分子生物学等新技术，紧紧围绕患者早期诊断和杂合子检测这个中心，层层深入，取得了很大进展，尤其是在ＷＤ离体培养皮肤成纤维细胞模型和分子生物学研究方面已达到国际先进水平。

Hepatolenticular degeneration Wilson disease is an autosomal recessively inherited disorder of copper metabolism.Its clinical features,multiple organ pathological changes,pathogenesis,clinical and molecular genetics,diagnostic methods and treatment have been studied by authors since early 1980's.The central topics of the research were the early diagnosis of patients and detection of heterozygotes with Wilson's disease.Much progress has been achieved,especially in the cultured skin fibroblast model study and gene linkage analysis,and are discribed in this review collected from our published articles.