摘要
目的研究一个家系中不同临床表型的同胞肝豆状核变性患者,明确其诊断并总结影响肝豆状核变性临床表现的因素。方法收集该家系中患病同胞的临床资料,查找肝豆状核变性临床表型的影响因素相关文献。结果该家系中一对同胞均为肝豆状核变性患者,弟弟6岁发病,表现为肝脏型,哥哥16岁发病,表现混合型(神经+肾脏),均检出exon5.c.1714del G(母源),exon8.c.2333G>T,p.R778L(父源),可基因确诊。该同胞间基因型相同,但发病年龄及临床表现不同,经查阅文献发现,ATP7B基因外的一些因素也可能影响临床表型。结论基因检测在儿童肝豆状核变性患者中具有重要意义;除了ATP7B基因外,肝豆状核变性患者的临床表型可能受多种因素影响。
Objective To study the clinical features of Wilson＇s disease patients with different clinical phenotypes in one pedigree. To make the diagnosis and summarize the factors influencing the clinical manifestations of patients with Wilson＇s disease. Methods The clinical data of siblings in this pedigree were collected.The literature about the factors influencing the clinical phenotype of Wilson＇s disease were found. Results There were two siblings in one pedigree with Wilson＇s disease.The younger brother whose phenotype is liver-type,was 6 years old. His brother was 16 years old and showed mixed type（ nerve＋kidney）. Their genotype are exon5.c.1714 del G（ maternal）,exon8.c.2333 GT,p.R778 L（ paternal）. They have the same genotype but different phenotypes and different age of onset. After reviewing the literature,we found some factors outside the ATP7 B gene may also affect the clinical phenotype. Conclusions Genetic testing is of great importance in children with Wilson＇s disease. Screening for hepatolenticular degeneration should be performed in children with liver disease or neurological manifestations.In addition to the ATP7 B gene,the clinical phenotype of hepatolenticular degeneration may also be affected by many other factors.
作者
王伟
邱正庆
袁裕衡
刘妍
马明圣
WANG Wei;QIU Zheng-qing;YUAN Yu-heng;LIU Yan;MA Ming-sheng(Dept. of Pediatrics, Peking Union Medical College Hospital, CAMS ＆ PUMC, Beijing 100730;Dept. of Pediatrics, Affiliated Hospital of Xiamen University, Xiamen 361003;Dept. of Pediatrics, Beijing Shijitan Hospital, Beijing 100038, China)
出处
《基础医学与临床》
CSCD
2018年第6期827-830,共4页
Basic and Clinical Medicine
基金
国家重点研发计划(2016YFC0905100)
关键词
肝豆状核变性
诊断
同胞
影响因素
临床表型
Wilson＇s disease
diagnosis
siblings
ilffluential factors
clinical phenotype
