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对肝豆状核变性(简称HLD)的认识与研究已有70年的历史,通过对家族遗传谱系的调查已经证明该病为常染色体隐性遗传性疾患.在我国见到的病例,绝大部份皆有同病家族史.本病并不太少见,约占世界人口的1/20万,至于人群中杂合子的数量则更多,Bearn推算美国人约250人中有1个杂合子,有马等推算日本人每80～150人中即有1个杂合子,相差甚为悬殊.本病多在青少年期发病,临床表现形形色色,易于延误诊断,早期诊断、早期治疗对该病的予后有相当大的价值.
It has been 70 years since the understanding and research of Wilson’s disease (HLD) has been proved to be an autosomal recessive disease by investigation of family genetic lineages. The cases seen in our country are extremely large Some of them have a family history of the same disease.The disease is not uncommon, about 1/20 million of the world population, as more heterozygous populations, Bearn estimated that there are about one in about 250 Americans heterozygotes , A horse and other projections of Japanese every 80 to 150 people that there is a heterozygote, the difference is very poor. The disease mostly in adolescence, clinical manifestations of various colors, easy to delay diagnosis, early diagnosis, early treatment of the disease After the grant of considerable value.