成骨不全家系分析

The study of clinical manifestations of osteogenesis imperfecta in a Chinese family.

目的探讨成骨不全(O I)家系遗传方式。方法对发现的O I家系进行现场调查,收集临床资料,绘制家系图谱;总结并分析临床特点。对3例患者采用双膦酸盐治疗,观察疗效。结果(1)临床特征:该家系共4代60人,临床诊断Ⅰ型O I的患者共20例,现场调查存在蓝巩膜15例;牙质形成不全者16例;进行性听力下降5例;发生骨折者3例;先证者母亲和表姐分别合并甲状腺乳头状癌和Turner综合征。(2)家系图谱显示遗传方式属于常染色体显性遗传。(3)治疗:先证者及其母亲和表姐接受双膦酸盐治疗2年,骨痛症状明显改善,骨密度显著增加,治疗期间未发生新的骨折。结论(1)该中国汉族O I家系临床诊断符合Ⅰ型O I,遗传方式为常染色体显性遗传。(2)双膦酸盐可能是治疗O I的有效药物。

Objective To study the clinical characters, the mode of inheritance of osteogenesis Imperfecta in a Chinese Family and effect of bisphosphonate on Osteogenesis Imperfecta. Methods Clinical data of proband and their family members were collected. The family patterns were mapped, clinical features were summarized and analyzed. Results （ 1 ） Clinical features ：There are sixty members of four generations in the family. 20 cases including proband＇s mother and cousin were diagnosed as having OI type Ⅰ based on clinical manifestations. 15 cases of blue sclera, 16 cases of dentinogenesis imperfecta, 5 cases of hearing loss and 3 cases of fracture. Thyroid cancer and Turner＇s syndrome was found in Proband＇s mother and cousin respectively. （2）The genetic map showed that the disease was autosomal dominant inheritance. （3）Treatment ：The proband, her mother and her cousin were treated with alendronate for two years. Bone pain relieved and bone mineral density increased significantly, and no fracture occurred so far. Conclusion （ 1 ） This OI family was diagnosed as having OI type Ⅰ. The mode of inheritance is autosomal dominant inheritance. （ 2 ） Bisphosphonates may be an effective drug for treatment of OI.