低磷抗维生素D性佝偻病诊治进展

Progress in the diagnosis and treatment of hypophosphatemic vitamin D resistant rickets

低磷抗维生素D性佝偻病是一组以肾脏磷排泄增多、血磷降低为核心特征的代谢性骨病。机体磷代谢是一个复杂的反馈调节网络,其中甲状旁腺素(PTH)、成纤维细胞生长因子23(FGF23)以及1,25-(OH)2D3是最为关键的调控因子。随着对磷代谢及其发病机制认识的深入,低磷抗维生素D性佝偻病的诊断与治疗取得了新的进展。该文在阐述机体磷代谢调控机制的基础上,介绍低磷性佝偻病常见类型的发病机制及临床表现,总结低磷性佝偻病诊断方法并阐述最新治疗进展。

Hypophosphatemic Vitamin D resistant rickets is a group of metabolic bone diseases characterized by increase re- nal excretion of phosphate and hypophosphatemia. Regulation of phosphate homeostasis includes a complicated feedback net- work, in which parathyroid hormone （PTH） , fibroblast growth factor- 23 （FGF23） and 1,25- （OH） D3 are key regulatory factors. With the understanding of phosphate regulation and the pathogenesis of this disease, progresses have been made in the diagnosis and treatment in hypophosphatemic rickets recently. In this review, based on the mechanisms of phosphate regulation, we explain the pathogenesis and clinical manifestations of hypophosphatemic rickets, and summarize up-to-date diagnostic and therapeutic approaches.