【摘要】 目的：探讨临床发现的一成骨不全（OI）家系的遗传方式及临床特点。方法：对发现的成骨不全家系进行电话和现场调查（问卷调查病史、临床查体等方法），收集该家系共4代45名成员临床资料（包括性别、年龄、身高、病史和主要特征及体征），绘制该家系遗传图谱，总结并分析该OI家系的遗传方式及临床特点。结果：（1）临床特征：调查该家系共4代45人，临床诊断为Ⅰ型OI的患者共7例，男女比例为2：5，其中蓝巩膜7例，发生骨折者4例，牙质形成不全者4例，患有肝癌1例，已故。另先天性聋哑患者2例，非成骨不全患者。（2）家系图谱显示该家系成骨不全遗传方式符合常染色体显性遗传。结论：（1）该OI家系临床诊断符合Ⅰ型OI，遗传方式为常染色体显性遗传，散发病例为基因突变所致，一旦获得就会按一定方式遗传下去，导致后代发病，形成家族性遗传。（2）蓝巩膜在Ⅰ型成骨不全患者中表现为100%，且可以单独遗传，不伴脆骨表现，且蓝巩膜颜色深浅在一定程度上可以反映病情的轻重程度。（3）治疗上以正确治疗骨折，采取保护措施，避免或减少骨折为主。做好产前诊断，优生优育，减少OI患者的出生。
【关键词】 成骨不全； 蓝巩膜； 脆骨病； 骨折
【Abstract】 Objective： To study the inheritance patterns and clinical features of a clinical osteogenesis imperfecta （OI） family. Method： To make interview and phone investigation of bone family members （clinical questionnaire about medical history， physical examination etc.）， and collect the clinical data of the 4-generation family with 45 members in all （including gender， age， height， medical history and the main characteristics and signs）， then draw the family genetic map， summarize and analyze the clinical features and genetic methods of the OI family. Result： （1） The clinical features： among the 45 members of the investigated family， there were 7 patients suffered from type Ⅰ OI， whose ratio of the male and female was 2：5， including 7 cases of blue sclera， 4 cases of fracture， 4 cases of incomplete dentin formation， and 1 case of liver cancer， who had died. Meanwhile， there were 2 cases of congenital deaf mutism， who were non osteogenesis imperfecta patients. （2） The family map showed that the genetic way of incomplete osteogenesis was consistent with autosomal dominant inheritance. Conclusion： （1） The diagnosis of O pedigree I was consistent with type Ⅰ OI， the mode of inheritance was autosomal dominant inheritance， and sporadic cases caused by gene mutation. So once it was gotten， it will be inherited in a certain way， bringing diseases to offspring and become genetic familial incidence. （2） There were 100% blue sclera in type Ⅰ osteogenesis imperfecta patients， and it can be in a separate genetic， without gristle performance. What’s more， the depths of the color can reflect seriousness of the disease. （3） Correct treatment of fracture and protection measures could avoid or reduce fractures. In addition， cautious should be taken on prenatal diagnosis to reduce the birth of OI patients.
【Key words】 Osteogenesis imperfecta； Blue sclera； Brittle bone disease； Fracture
First-author’s address： Chenghai People’s Hospital of Guangdong Province， Shantou 515800， China
推荐访问： 脆骨 家系 调查 分析
