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目的 :研究中西医结合治疗肝豆状核变性 (又称Wilson病 )疗效与临床表型和ATP7B基因第 1 8外显子突变的关系。方法 :1 2 2例具有不同临床表型的Wilson病患者以二巯基丙磺酸钠 (Unithiol) 2 0mg·kg- 1 ·d- 1 和中药肝豆片每次 1 0片 ,每天 3次治疗 ,疗程 1个月。采用多聚酶链反应 -单链构象多态 (PCR SSCP)分析技术对全部患者和 2 0名健康志愿者的ATP7B基因第 1 8外显子扩增进行突变及多态检测。结果 :3 7例患者呈现 4种不同类型的PCR SSCP异常迁移带而强烈提示突变的存在。不同临床表型患者的突变率以及有明显突变可能和无突变患者的疗效比较无显著性差异 (P >0 0 5 )。而肝豆状核变性型和假性硬化型的总有效率明显优于肝型患者 (P <0 0 5 )。结论 :中国人Wilson病患者ATP7B基因第 1 8外显子可能为一突变高发区。因绝大部分Wilson病患者是复合杂合子 ,且不同临床表型Wilson患者具有不同的疗效反应 ,故这些突变至少部分影响了临床表型的产生和治疗效果的好坏。
Objective: To study the relationship between the curative effect of hepatolenticular degeneration (also known as Wilson’s disease) and the clinical phenotype and the mutation of exon 18 of ATP7B gene. Methods: One hundred and twenty-two Wilson disease patients with different clinical phenotypes were treated with Unithiol 20 mg · kg-1 · d-1 and Hogwarts tablets 10 times a day, three times a day , Treatment for 1 month. The mutation and polymorphism of exon 18 of ATP7B gene in all patients and 20 healthy volunteers were detected by polymerase chain reaction-single strand conformation polymorphism (PCR SSCP). Results: There were 4 different types of PCR SSCP abnormal migration bands in 37 patients, which strongly suggested the existence of mutations. There was no significant difference in the mutation rates of patients with different clinical phenotypes and those with obvious mutations in the patients without mutation (P> 0.05). While the total effective rate of Wilson’s disease and pseudo-sclerosis was significantly better than that of liver-type (P <0.05). Conclusion: The 18th exon of ATP7B gene in Chinese patients with Wilson disease may be a high incidence of mutation. Because most patients with Wilson’s disease are complex heterozygotes, and patients with different clinical phenotype Wilson have different response, so these mutations affect, at least in part, the clinical phenotype and the treatment effect.