【摘要】 成骨不全症(osteogenesis imperfecta, OI)是最常见的单基因骨病，常幼年起病。本文报道两例新发COL1A1基因移码突变(c.2850delG、c.358dupC)导致的Ⅰ型OI患者，确诊时均为绝经后女性，描述其临床表型，以及双膦酸盐治疗后骨密度和骨代谢标志物的变化。提示临床医生注意对绝经后骨质疏松女性充分进行成骨不全的鉴别诊断，尤其是既往有脆性骨折史的女性。更多还原

【Abstract】 Osteogenesis imperfecta(OI) is the most common monogenic bone disease, which often onsets in childhood. Here, we report two patients with type I OI caused by novel frameshift mutations in COL1 A1 gene(c.2850 delG, c.358 dupC), both were postmenopausal women at diagnosis. Clinical manifestation and effects of zoledronic acid therapy on bone mineral density and bone turnover markers were fully described. It is suggested that post-menopausal osteoporosis should be carefully differentiated from mild OI, especially in postmenopausal women with a history of fragility fractures.更多还原