Tanaka Hiroyuki
Department of Pediatrics, Okayama Saiseikai General Hospital.
Clin Calcium. 2009 Aug;19(8):1142-7.
Osteogenesis imperfecta (OI) is a heterogeneous group of rare inherited bone and connective tissue disorders resulting from defect in collagen synthesis or function. It is characterized by bone fragility, which shows wide range of severities. The heterozygous mutations in the genes coding type I collagen are responsible to 80% of the OI cases. Metabolic bone markers relating type I collagen production or degraded products of mature collagen fiber may provides important information on the pathophysiology of OI. Typically, P1NP which is bone formation marker shows significant reduction and CTX or NTX shows relatively high level in type I OI. The other applications of metabolic bone markers in the management of OI will be discussed.
成骨不全症（OI）是一组由胶原蛋白合成或功能缺陷导致的罕见遗传性骨骼和结缔组织疾病。其特征是骨骼脆弱，严重程度范围广泛。编码I型胶原蛋白的基因中的杂合突变导致了80%的OI病例。与I型胶原蛋白产生或成熟胶原纤维降解产物相关的代谢骨标志物可能为OI的病理生理学提供重要信息。通常，作为骨形成标志物的I型前胶原氨基端前肽（P1NP）显著降低，而I型OI中I型胶原交联羧基末端肽（CTX）或I型胶原交联氨基末端肽（NTX）水平相对较高。将讨论代谢骨标志物在OI管理中的其他应用。
