In ultra-rare bone diseases, information on growth during childhood is sparse. Juvenile Paget disease (JPD) is an ultra-rare disease, characterized by loss of function of osteoprotegerin (OPG). OPG inhibits osteoclast activation via the receptor activator of nuclear factor-κB (RANK) pathway. In JPD, overactive osteoclasts result in inflammatory-like bone disease due to grossly elevated bone resorption. Knowledge on the natural history of JPD, including final height and growth, is limited. Most affected children receive long-term antiresorptive treatment, mostly with bisphosphonates, to contain bone resorption, which may affect growth. In this study, we report the follow-up of height, growth velocity, and skeletal maturation in a 16-year-old female patient with JPD. The patient was treated with cyclic doses of pamidronate starting at 2.5 years of age and with 2 doses of denosumab at the age of 8 years, when pamidronate was paused. In the following years, a sustainable decline in a height z-score and a stunted pubertal growth spurt; despite appropriate maturation of the epiphyseal plates of the left hand, the proximal right humerus and both femora were observed. Whether this reflects the growth pattern in JPD or might be associated to the antiresorptive treatments is unclear, since there is very limited information available on the effect of bisphosphonates and denosumab on growth and the growth plate in pediatric patients. Studies are needed to understand the natural history of an ultra-rare bone disease and to assess the effects of antiresorptive treatment on the growing skeleton.
Horm Res Paediatr

中文翻译：

---

幼年佩吉特病女孩的根茎和线性生长受损：该病的自然史

在极其罕见的骨骼疾病中，关于儿童期生长的信息很少。幼年佩吉特病 (JPD) 是一种极为罕见的疾病，其特征是骨保护素 (OPG) 功能丧失。OPG 通过核因子-κB (RANK) 通路的受体激活剂抑制破骨细胞活化。在 JPD 中，过度活跃的破骨细胞由于骨吸收严重升高而导致炎症样骨病。关于 JPD 自然史的知识，包括最终身高和生长，是有限的。大多数受影响的儿童接受长期抗骨吸收治疗，主要是使用双膦酸盐，以控制可能影响生长的骨吸收。在这项研究中，我们报告了一名 16 岁女性 JPD 患者的身高、生长速度和骨骼成熟情况的随访。患者从 2 点开始接受循环剂量的帕米膦酸盐治疗。5 岁，8 岁时服用 2 剂狄诺塞麦，此时帕米膦酸盐暂停。在接下来的几年里，高度持续下降z分数和发育迟缓的青春期生长突增；尽管左手骨骺板适当成熟，但仍观察到右肱骨近端和两个股骨。这是否反映了 JPD 的生长模式或可能与抗吸收治疗有关尚不清楚，因为关于双膦酸盐和地诺单抗对儿科患者生长和生长板的影响的可用信息非常有限。需要研究来了解超罕见骨病的自然史，并评估抗骨吸收治疗对骨骼生长的影响。
儿科荷尔蒙