Abstract

摘要： 成骨不全又称蓝巩膜-脆骨综合症, 是一种常染色体遗传性疾病。绝大多数(90%以上)为显性遗传, 常呈家族聚集, 偶有散发, 儿童中发病率约为1∶10 000, 无明显性别差异。该病的主要病因是由于编码I型胶原α链的COL1A1、COL1A 2基因突变, 导致I型胶原合成障碍, 结缔组织中胶原量尤其是Ⅰ型胶原含量降低, 导致骨骼、皮肤、牙本质等部位出现病变。该病的临床特征主要有身材偏矮小、蓝色巩膜、骨密度减低或骨脆性增加并易骨折、进行性耳聋、牙本质发育不全以及鸡胸等等, 重者可导致患儿围产期或出生后死亡, 或反复骨折畸形失去劳动力。目前, 医学界对该病尚无有效根治疗法, 因此对有家族病史的高危孕妇做好产前咨询、诊断和基因筛查, 进行优生干预很有必要。

关键词: 成骨不全, 脆骨症, 儿童

CLC Number:

R179

余长缨, 王午喜, 韩德宣. 儿童成骨不全的诊治进展[J]. 中国儿童保健杂志, 2014, 22(2): 156-157.

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儿童成骨不全的诊治进展

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