Steiner R D, Pepin M, Byers P H
Department of Pathology, University of Washington, Seattle, USA.
J Pediatr. 1996 Apr;128(4):542-7. doi: 10.1016/s0022-3476(96)70367-0.
To determine whether analysis of collagen synthesized by dermal fibroblasts could identify children with osteogenesis imperfecta (OI) among those suspected to have been abused.
We reviewed biochemical studies and clinical findings for all children who were referred to us to distinguish OI from abuse during a 4-year period.
Cells from 6 of 48 children tested to distinguish OI from abuse had biochemical evidence of OI. In five of the six children with abnormal results on collagen studies, clinical signs of OI in addition to fractures were present on examination by a physician familiar with the condition. In those five cases, the diagnosis of OI was strongly suspected.
OI can be diagnosed by biochemical studies in some cases of suspected abuse, but clinical evaluation by experienced physicians is usually sufficient to do so. When diagnostic uncertainty persists in cases of suspected child abuse, biochemical studies may be a useful adjunct, but routine biopsy for children suspected to have been abused is unwarranted.
确定对真皮成纤维细胞合成的胶原蛋白进行分析是否能够在疑似受虐待儿童中识别出成骨不全症（OI）患儿。
我们回顾了在4年期间转诊至我院以鉴别OI与虐待情况的所有儿童的生化研究及临床检查结果。
在接受检测以鉴别OI与虐待情况的48名儿童中，有6名儿童的细胞具有OI的生化证据。在胶原蛋白研究结果异常的6名儿童中，有5名在经熟悉该病症的医生检查时，除骨折外还存在OI的临床体征。在这5例病例中，强烈怀疑为OI。
在一些疑似虐待病例中，可通过生化研究诊断OI，但经验丰富的医生进行临床评估通常就足以诊断。当疑似虐待儿童病例的诊断仍存在不确定性时，生化研究可能是一种有用的辅助手段，但对疑似受虐待儿童进行常规活检是不必要的。
