Bhadada Sanjay Kumar, Dhiman Vandana, Mukherjee Soham, Aggarwal Sameer, Bal Amanjit, Sukumar Suja P, Sood Ashwani, Sharma Dinesh Chandra, Khandelwal Niranjan, Bhansali Anil, Van Hul Wim, Rao Sudhaker D
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.
Department of Orthopedics, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.
J Clin Endocrinol Metab. 2017 May 1;102(5):1750-1756. doi: 10.1210/jc.2016-3055.
Fibrogenesis imperfecta ossium (FIO) is a rare bone disease manifested by generalized bone pain, fragility fractures, progressive disability, and extensive mineralization defect seen in bone biopsy specimens. The pathogenesis of the disease is unknown and currently there is no effective treatment.
To report on the effect of recombinant human growth hormone (rhGH) therapy in FIO.
An observational study in two patients.
Endocrinology clinic in an academic institution.
Two siblings with FIO.
INTERVENTION(S): rhGH was administered subcutaneously at a dose of 1 U daily for 1 year.
Changes in clinical, biochemical, radiological, and bone histological (i.e., light and transmission electron microscopy, and histomorphometry) investigations.
Except for an elevated serum alkaline phosphatase level, results of routine biochemical, hematological, and hormonal investigations were normal in both patients. Radiographs showed pseudofractures and bone scans revealed a "beheaded" tracer activity pattern (i.e., superscan without uptake in the skull). Bone biopsy specimens showed severe mineralization defect simulating osteomalacia with disorganized collagen fibril alignment. Treatment with rhGH was followed by clinical, biochemical, and radiological improvement in both the patients, with substantial improvement in the mineralization defect, most likely due to rhGH-induced improvement in collagen fibril arrangement.
We report on two brothers with FIO and demonstrate clinical improvement and restoration of normal bone pathology with rhGH therapy. We suggest that rhGH is a potential therapy for FIO for which no effective therapy currently exists.
骨纤维发育不全（FIO）是一种罕见的骨病，表现为全身骨痛、脆性骨折、进行性残疾，且在骨活检标本中可见广泛的矿化缺陷。该病的发病机制尚不清楚，目前尚无有效治疗方法。
报告重组人生长激素（rhGH）治疗FIO的效果。
对两名患者进行的观察性研究。
一所学术机构的内分泌诊所。
两名患有FIO的兄弟姐妹。
rhGH皮下注射，剂量为每日1单位，共治疗1年。
临床、生化、放射学及骨组织学（即光镜、透射电镜及组织形态计量学）检查的变化。
除血清碱性磷酸酶水平升高外，两名患者的常规生化、血液学及激素检查结果均正常。X线片显示假骨折，骨扫描显示“断头”示踪剂活性模式（即全身扫描，颅骨无摄取）。骨活检标本显示严重的矿化缺陷，类似骨软化症，胶原纤维排列紊乱。rhGH治疗后，两名患者的临床、生化及放射学均有改善，矿化缺陷有显著改善，很可能是由于rhGH诱导胶原纤维排列改善。
我们报告了两名患有FIO的兄弟，并证明rhGH治疗可实现临床改善及恢复正常骨病理。我们认为rhGH是FIO的一种潜在治疗方法，目前尚无有效治疗方法。
