安徽省金寨县和利辛县汉族人群肝豆状核变性的患病率调查(附一家系报道)

目的调查安徽省金寨县和利辛县汉族人群肝豆状核变性(HLD)的患病率,分析筛查出的HLD患者ATP7B基因的突变特点。方法于2009年11月至2010年6月期间,根据随机整群抽样、阶段调查和年龄分层分析的原则与方法,由专业人员采用裂隙灯检查双眼角膜K-F环作为筛查方法,在金寨县和利辛县境内的学校、工厂、社区、机关单位和村庄等地点的7～75岁年龄组的汉族人群进行调查,同时了解每位被检查者有无肝、脑、肾、皮肤损害等与HLD相关的临床表现,对发现K-F环阳性及有可疑HLD临床表现者,询问其神经遗传性疾病的家族史,由神经科专科医师行神经系统检查并行铜生化、腹部超声检查及ATP7B基因突变检测等,从而确诊或排除HLD。结果在上述人群中共调查了40 560人,发现2例同胞姐妹均为HLD患者的一个家系。2例患者血清铜、血清铜蓝蛋白和铜氧化酶水平均明显减低,ATP7B基因突变检测提示2例患者均存在第8外显子Arg778Leu错义突变和第14外显子3061-3CA剪接点突变。安徽省金寨县和利辛县本组人群HLD的患病率约为4.93/10万人口。结论 HLD在我国并非为少见病,又因其为可治性遗传病,临床医师在日常临床诊疗实践中应该提高对该病的警惕性,对疑似本病的患者应尽早行角膜K-F环、铜生化等检查,力争做到早期发现、早期诊断、早期治疗,从而减少漏诊、误诊和误治。

Epidemiological investigation on hepatolenticular degeneration of Han population in Jinzhai county and Lixin county, Anhui province: report of a family pedigree

Objective To find out the prevalence rates of haptolenticular degeneration(HLD) of Han population in Jinzhai county and Lixin county,Anhui province and analyze mutation characteristics of ATP7B gene of HLD patients who were screened in this study.Methods According to the principles and methods of cluster sampling,investigation by stages and analysis of age stratification,cornea slit-lamp examination was as screen method by professional technicians during the period from November 2009 to June 2010.The people who were screened were from schools,factories,communities,institutions and villages in Jinzhai county and Lixin county,Anhui province and they were 7 to 75 years age group.Their clinical manifestations such as brain,liver,kidney,skin and other organs damaged which were associated with HLD were identified.For the people which had K-F rings or their clinical manifestations were suspicious to HLD,physical examinations of nervous system were executed by neurological experters.In order to confirm or exclude HLD,copper biochemistry examinations,abdominal ultrasonograph examinations and mutation detection of ATP7B gene were executed at the same time.Results 40 560 people were screened in this study and 2 HLD patients who were compatriot sisters from a family were acquired final diagnosis.They were with low levels of serum copper,ceruloplasmin and copper oxidase.The missense mutation Arg778Leu,which located on exon 8,and the splicing mutation 3061-3C>A,which located on exon 14,were found for them by gene mutation analysis.The prevalence rate was 4.93/100,000 in Jinzhai county and Lixin county,Anhui province in this study.Conclusion HLD is not a rare disease in Chinese.To avoid misdiagnosis and incorrect treatment,doctors should pay more attention to this curable disease and try their best to achieve early detection,early diagnosis and early treatment by examinations such as K-F rings,copper biochemistry and abdominal ultrasonograph for suspect patients.