帕米膦酸盐治疗一名患有骨发育迟缓及新型INPPL1变异的患者：疗效、机制及临床结果
Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.
作者信息
Tabanli Gulin, Hazan Filiz, Ozer Gulsen, Koprulu Ozge, Nalbantoglu Ozlem, Ozkan Behzat
机构信息
Department of Pediatric Endocrinology, Dr. Behçet Uz Children's Hospital, University of Health Sciences, Izmir, Turkey.
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, University of Health Sciences, Izmir, Turkey.
出版信息
Mol Syndromol. 2025 Jun 3. doi: 10.1159/000546324.
INTRODUCTION
Opsismodysplasia (OPS) is a rare skeletal dysplasia characterized by delayed bone maturation, distinctive skeletal deformities, and severe growth impairment. Mutations in the gene, particularly homozygous variants, are the primary genetic cause of this condition. While bisphosphonate therapy has shown efficacy in OPS cases with hypophosphatemic rickets, its role in cases without this complication remains unclear.
CASE PRESENTATION
A 2-year-and-2-month-old girl with OPS was treated with intravenous pamidronate (0.5 mg/kg/3 months). Initial evaluations showed severe short stature and low bone mineral density (DEXA SDS: -3.16). After three courses of treatment, the patient achieved independent walking, and her DEXA SDS improved to -2.5 over 1 year.
DISCUSSION
Pamidronate is effective in treating OPS even in the absence of hypophosphatemic rickets, showing potential as a therapeutic option for this rare condition.
引言
迟骨发育异常（OPS）是一种罕见的骨骼发育异常，其特征为骨骼成熟延迟、独特的骨骼畸形以及严重的生长障碍。该基因的突变，尤其是纯合变体，是这种疾病的主要遗传病因。虽然双膦酸盐疗法在患有低磷性佝偻病的OPS病例中已显示出疗效，但其在无此并发症的病例中的作用仍不明确。
病例报告
一名2岁2个月大的OPS女童接受了静脉注射帕米膦酸（0.5毫克/千克/3个月）治疗。初始评估显示严重身材矮小和低骨矿物质密度（双能X线吸收法标准偏差评分：-3.16）。经过三个疗程的治疗，患者实现独立行走，其双能X线吸收法标准偏差评分在1年内改善至-2.5。
讨论
即使在没有低磷性佝偻病的情况下，帕米膦酸治疗OPS也有效，显示出作为这种罕见疾病治疗选择的潜力。
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