Shea-Landry G L, Cole D E
CMAJ. 1986 Nov 1;135(9):977-81.
Osteogenesis imperfecta is a heterogeneous group of inherited disorders characterized by bone fragility and recurrent fractures. It is currently classified into four types on clinical grounds and appears to arise from different disorders of bone collagen synthesis. The biochemical identification of disturbances in collagen metabolism and the genetic delineation of new mutations of collagen genes have made prenatal diagnosis by molecular methods feasible in some cases. Most people with osteogenesis imperfecta suffer frequent fractures (and sometimes consequent serious disability), for which there are few effective preventive measures. This disorder may have a profound psychosocial influence on patients and their families. In this report the extent of this influence is reviewed and aspects important to the medical community are highlighted; these include the emotional burdens imposed by unfounded suspicions of child abuse, the social and financial costs of repeated hospitalization and immobility, and the frustrations generated by the lack of helpful, practical information for families and health care workers. An important social outcome has been the rise of self-help organizations, exemplified by the Canadian Osteogenesis Imperfecta Society. For Canadian families the society has been an important vehicle for exchange of information and an active, positive response to a lifelong, often severely disabling disorder.
成骨不全症是一组遗传性疾病的统称，其特征为骨骼脆弱和反复骨折。目前根据临床症状分为四种类型，似乎源于不同的骨胶原合成障碍。对胶原代谢紊乱的生化鉴定以及胶原基因新突变的基因定位，使得在某些情况下通过分子方法进行产前诊断成为可能。大多数成骨不全症患者经常骨折（有时会导致严重残疾），对此几乎没有有效的预防措施。这种疾病可能会对患者及其家庭产生深远的心理社会影响。在本报告中，将对这种影响的程度进行综述，并突出对医学界重要的方面；这些方面包括无端怀疑虐待儿童所带来的情感负担、反复住院和行动不便的社会及经济成本，以及因缺乏对家庭和医护人员有用的实用信息而产生的挫败感。一个重要的社会成果是自助组织的兴起，以加拿大成骨不全症协会为例。对加拿大家庭来说，该协会一直是信息交流的重要平台，也是对这种终身性、往往严重致残的疾病的积极有效应对。
