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肝豆状核变性 (WD)是由于编码铜转运的P型ATP酶基因突变而导致该酶的功能丧失 ,不能将铜伴侣传递而来的铜与α2 球蛋白结合 ,导致铜蓝蛋白合成异常 ,胆道泌铜障碍 ,使游离铜增多 ,异常沉积于肝、脑和眼角膜 ,引起相应的器官脏器损伤 ,如肝硬化、锥体外系损伤、K F环、溶血性贫血、肾小管损伤、肾性血尿和骨皮质变薄等改变。该文回顾了近年来WD的有关新进展 ,包括铜蓝蛋白、铜伴侣蛋白、ATP7B基因及相关蛋白的结构功能、基因突变及治疗 ,为进一步从根本上治疗WD提出可能的思路。
Hepatolenticular degeneration (WD) is a result of the loss of function of the enzyme due to a mutation in the P-type ATPase enzyme that encodes copper transport. Copper can not be bound to α2 globin due to the copper chaperone, resulting in abnormalities of ceruloplasmin synthesis, Biliary copper deficiency, so that increased free copper, abnormal deposition in the liver, brain and cornea, causing the corresponding organ damage, such as cirrhosis, extrapyramidal damage, KF ring, hemolytic anemia, renal tubular injury, renal Hematuria and cortical thinning and other changes. In this review, we review the recent advances in WD, including the structural functions, gene mutations and therapies of ceruloplasmin, copper chaperone, ATP7B and related proteins, and provide possible ideas for further radical treatment of WD.