Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Endocrinology Diabetes & Metabolism, State University of New York Upstate Medical University, Syracuse, NY, USA.
Calcif Tissue Int. 2019 May;104(5):561-569. doi: 10.1007/s00223-019-00547-8. Epub 2019 May 8.
Fibrogenesis imperfecta ossium (FIO) is an extremely uncommon fatal bone disorder of poorly understood etiology. The pathogenesis of FIO is not well known. The fundamental skeletal defect appears to be an abnormality in organic matrix of bone characterized by defective mineralization of the abnormal collagen. FIO clinically manifests in middle-aged adults presenting with fracture and bone pain. Elevated serum alkaline phosphatase is the only and the most consistent biochemical abnormality. Although paraproteinemia is observed in one-third of cases, the pathogenic link to the disease process is unclear. Limited information on FIO and its close resemblance to many metabolic bone disorders leads to delayed or missed diagnoses and management. Prednisolone, bisphosphonates, melphalan and steroids have been tried previously with variable success. Recently, a trial of recombinant growth hormone therapy was found to be effective. Further research focused on the pathogenetic mechanisms of FIO is needed to identify and develop targeted therapeutic options.
骨纤维结构不良（FIO）是一种极罕见的病因不明的致命性骨疾病。FIO 的发病机制尚不清楚。基本的骨骼缺陷似乎是骨有机基质的异常，其特征是异常胶原的矿化缺陷。FIO 临床上表现为中年成人出现骨折和骨痛。血清碱性磷酸酶升高是唯一且最一致的生化异常。尽管三分之一的病例观察到副蛋白血症，但与疾病过程的致病联系尚不清楚。关于 FIO 的信息有限，且其与许多代谢性骨疾病非常相似，导致诊断和治疗延迟或漏诊。此前曾尝试使用泼尼松龙、双膦酸盐、美法仑和类固醇，但效果不一。最近，重组生长激素治疗的试验被发现是有效的。需要进一步研究 FIO 的发病机制，以确定和开发有针对性的治疗选择。
