中国医学创新
中國醫學創新
중국의학창신
MEDICAL INNOVATION OF CHINA
2015年
25期
106-109,110
,共5页
成骨不全%蓝巩膜%脆骨病%骨折
成骨不全%藍鞏膜%脆骨病%骨摺
성골불전%람공막%취골병%골절
Osteogenesis imperfecta%Blue sclera%Brittle bone disease%Fracture
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。
目的：探討臨床髮現的一成骨不全（OI）傢繫的遺傳方式及臨床特點。方法：對髮現的成骨不全傢繫進行電話和現場調查（問捲調查病史、臨床查體等方法），收集該傢繫共4代45名成員臨床資料（包括性彆、年齡、身高、病史和主要特徵及體徵），繪製該傢繫遺傳圖譜，總結併分析該OI傢繫的遺傳方式及臨床特點。結果：（1）臨床特徵：調查該傢繫共4代45人，臨床診斷為Ⅰ型OI的患者共7例，男女比例為2：5，其中藍鞏膜7例，髮生骨摺者4例，牙質形成不全者4例，患有肝癌1例，已故。另先天性聾啞患者2例，非成骨不全患者。（2）傢繫圖譜顯示該傢繫成骨不全遺傳方式符閤常染色體顯性遺傳。結論：（1）該OI傢繫臨床診斷符閤Ⅰ型OI，遺傳方式為常染色體顯性遺傳，散髮病例為基因突變所緻，一旦穫得就會按一定方式遺傳下去，導緻後代髮病，形成傢族性遺傳。（2）藍鞏膜在Ⅰ型成骨不全患者中錶現為100%，且可以單獨遺傳，不伴脆骨錶現，且藍鞏膜顏色深淺在一定程度上可以反映病情的輕重程度。（3）治療上以正確治療骨摺，採取保護措施，避免或減少骨摺為主。做好產前診斷，優生優育，減少OI患者的齣生。
목적：탐토림상발현적일성골불전（OI）가계적유전방식급림상특점。방법：대발현적성골불전가계진행전화화현장조사（문권조사병사、림상사체등방법），수집해가계공4대45명성원림상자료（포괄성별、년령、신고、병사화주요특정급체정），회제해가계유전도보，총결병분석해OI가계적유전방식급림상특점。결과：（1）림상특정：조사해가계공4대45인，림상진단위Ⅰ형OI적환자공7례，남녀비례위2：5，기중람공막7례，발생골절자4례，아질형성불전자4례，환유간암1례，이고。령선천성롱아환자2례，비성골불전환자。（2）가계도보현시해가계성골불전유전방식부합상염색체현성유전。결론：（1）해OI가계림상진단부합Ⅰ형OI，유전방식위상염색체현성유전，산발병례위기인돌변소치，일단획득취회안일정방식유전하거，도치후대발병，형성가족성유전。（2）람공막재Ⅰ형성골불전환자중표현위100%，차가이단독유전，불반취골표현，차람공막안색심천재일정정도상가이반영병정적경중정도。（3）치료상이정학치료골절，채취보호조시，피면혹감소골절위주。주호산전진단，우생우육，감소OI환자적출생。
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 typeⅠ 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.
