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利塞膦酸盐治疗1型神经纤维瘤病相关低骨量:及时一针省九针。

Risedronate therapy for neurofibromatosis Type 1-related low bone mass: a stitch in time saves nine.

作者信息

Benlidayi I Coskun, Ortac E Aygul, Kozanoglu E

出版信息

Acta Clin Belg. 2015 Apr;70(2):130-2. doi: 10.1179/2295333714Y.0000000094. Epub 2014 Oct 22.

Abstract

Neurofibromatosis Type 1 (NF1) is a common hereditary disease characterized by disorders regarding the skin, neural, and skeletal systems. Osteoporosis is one of the skeletal manifestations of NF1, which is associated with increased fracture risk. The management of NF1-related low bone mass has been less studied in the literature. We present a 19-year-old patient with severe low bone mass complicating NF1. The patient received 1-year course of 35 mg risedronate sodium once per week along with a daily regimen of 1200 mg calcium and 800 IU vitamin D. Significant improvement with regard to the Z-scores and bone mineral density values was achieved. Besides, rapid favourable biochemical response was obtained. The patient experienced 24·4 and 15·0% improvements in bone mineral density at the lumbar site and hip, respectively, at the first year of therapy. No adverse effect was observed. Since increased bone turnover is the primary contributor of osteoporosis in NF1, antiresorptive agents such as bisphosphonates can be considered for treatment. Despite the lack of consensus on the treatment of osteoporosis in NF1, risedronate may hold a promise as a potential therapy for osteoporosis complicating NF1. This is the first report of risedronate therapy in a case with NF1-associated low bone mass in the literature.

摘要

1型神经纤维瘤病(NF1)是一种常见的遗传性疾病,其特征是皮肤、神经和骨骼系统出现紊乱。骨质疏松症是NF1的骨骼表现之一,与骨折风险增加有关。文献中对NF1相关低骨量的管理研究较少。我们报告一名19岁患有严重低骨量并伴有NF1的患者。该患者接受了为期1年的治疗,每周一次服用35毫克阿仑膦酸钠,同时每天服用1200毫克钙和800国际单位维生素D。Z评分和骨密度值有显著改善。此外,还获得了快速良好的生化反应。在治疗的第一年,患者腰椎部位和髋部的骨密度分别提高了24.4%和15.0%。未观察到不良反应。由于骨转换增加是NF1中骨质疏松症的主要原因,抗吸收药物如双膦酸盐可考虑用于治疗。尽管在NF1骨质疏松症的治疗上缺乏共识,但阿仑膦酸钠可能有望成为治疗NF1并发骨质疏松症的潜在疗法。这是文献中首例关于阿仑膦酸钠治疗NF1相关低骨量病例的报告。

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