Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey.
Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Osteoporos Int. 2018 Jun;29(6):1471-1474. doi: 10.1007/s00198-018-4443-7. Epub 2018 Mar 3.
Juvenile Paget's disease (JPD) is a rare autosomal recessive osteopathy. There is still a question about the most effective treatment modality in long-term prognosis. A 9-month-old boy who suffered from bone pain and deformities with a very high alkaline phosphatase level was diagnosed as JPD by radiographic findings. Genetic analysis showed a homozygous large deletion in TNFRSF11B gene encoding osteoprotegerin. Clinical improvement was observed with intravenous pamidronate therapy. However, the effect of drug reduced in time so the annual dose per kilogram body weight was increased after 2 years. Despite this increment, bone fractures developed and bone pain recurred with high-ALP levels, which suggested resistance to pamidronate. Switching to zoledronate resulted a significant improvement in bone findings radiographically and ALP level. Severe hypocalcemia requiring intravenous calcium treatment complicated the first dose of zoledronate, but not recurred thereafter. Intravenous pamidronate therapy is effective in reducing bone pain, improving bone deformities and motor development in infantile onset JPD. However, this effect can be transient. Switching to another bisphosphonate like zoledronate may provide long-term clinical and biochemical improvement as an alternative treatment in case of resistance to pamidronate therapy.
青少年佩吉特病（JPD）是一种罕见的常染色体隐性骨病。对于长期预后的最有效治疗方式仍存在疑问。一名 9 个月大的男婴因骨痛和畸形，碱性磷酸酶水平非常高，经影像学检查诊断为 JPD。基因分析显示 TNFRSF11B 基因（编码骨保护素）纯合大片段缺失。静脉注射帕米膦酸盐治疗后观察到临床改善。然而，药物的效果随着时间的推移而降低，因此在 2 年后，每公斤体重的年剂量增加。尽管如此，仍发生骨折，骨痛复发，碱性磷酸酶水平升高，提示对帕米膦酸盐耐药。改用唑来膦酸后，骨骼影像学和碱性磷酸酶水平均有显著改善。第一次使用唑来膦酸时出现严重低钙血症，需要静脉补钙治疗，但此后未再复发。静脉注射帕米膦酸盐治疗可有效减轻婴儿发病的 JPD 患者的骨痛，改善骨骼畸形和运动发育。然而，这种效果可能是短暂的。如果对帕米膦酸盐治疗产生耐药，可以改用另一种双膦酸盐，如唑来膦酸，作为替代治疗方法，以提供长期的临床和生化改善。
