Kumar Angad, Saikia Uma K, Bhuyan Ashok K, Baro Abhamoni, Prasad Surendra G
Department of Endocrinology, Gauhati Medical College and Hospital, Guwahati, Assam, India.
Indian J Endocrinol Metab. 2023 May-Jun;27(3):255-259. doi: 10.4103/ijem.ijem_268_22. Epub 2023 Jun 26.
Osteogenesis imperfecta (OI) is a genetic disorder of the extracellular matrix of bone characterized by low bone mass manifesting as frequent fractures, delayed motor development, pain, and impaired quality of life. The intravenous bisphosphonate, pamidronate is an established treatment for OI. Recently, zoledronic acid (ZA) has been used for the management of OI.
To assess the efficacy and safety of ZA in children below five years of age with OI.
A hospital-based prospective observational study.
Patients with OI aged less than five years attending our centre were treated with intravenous ZA at a dose of 0.05 mg/kg every six months. Subjects were closely monitored for clinical and biochemical variables, adverse events, and new-onset fractures. The response to therapy was assessed by monitoring clinical variables including the degree of bony pains, number of fractures, height/length standard deviation score (SDS), and motor developmental milestones. All patients were analysed at baseline and at the end of two years for biochemical parameters and clinical severity score (CSS) as proposed by Aglan . with modifications.
After two years of treatment, OI patients showed a significant decline in the rate of fractures ( < 0.001), improvement in ambulation ( = 0.005), alleviation of pain ( < 0.001), and improvement in height SDS ( < 0.05). There was a significant improvement in CSS after two years of therapy. Apart from mild flu-like symptoms and mild asymptomatic hypocalcaemia immediately post-infusion, no other adverse effect was noted.
ZA therapy in infants and children below five years of age with OI was effective and safe and a more convenient alternative to pamidronate.
成骨不全症（OI）是一种骨细胞外基质的遗传性疾病，其特征为骨量低，表现为频繁骨折、运动发育迟缓、疼痛及生活质量受损。静脉注射双膦酸盐帕米膦酸是治疗OI的一种既定疗法。最近，唑来膦酸（ZA）已用于OI的治疗。
评估ZA治疗5岁以下OI患儿的疗效和安全性。
一项基于医院的前瞻性观察性研究。
年龄小于5岁且在本中心就诊的OI患者每6个月接受一次剂量为0.05mg/kg的静脉注射ZA治疗。密切监测受试者的临床和生化指标、不良事件及新发骨折情况。通过监测临床指标来评估治疗反应，这些指标包括骨痛程度、骨折数量、身高/身长标准差评分（SDS）及运动发育里程碑。所有患者在基线时以及两年结束时均针对生化参数和Aglan提出并经修改的临床严重程度评分（CSS）进行分析。
经过两年治疗，OI患者的骨折发生率显著下降（<0.001），行走能力有所改善（=0.005），疼痛减轻（<0.001），身高SDS有所改善（<0.05）。治疗两年后CSS有显著改善。除了输注后立即出现的轻度流感样症状和轻度无症状性低钙血症外，未观察到其他不良反应。
ZA治疗5岁以下OI婴幼儿有效且安全，是帕米膦酸更方便的替代疗法。
