低磷性佝偻病研究进展

摘要

低磷性佝偻病是由于各种原因引起肾小管对磷的重吸收障碍,从而导致骨发育不良的一组肾失磷性代谢性骨病,临床表现为低磷血症、身材矮小、双下肢骨骼畸形.致病因素主要为先天/遗传或者继发于肿瘤及其他肾小管疾病,包括X连锁低磷性佝偻病、常染色体显性低磷性佝偻病、常染色体隐性低磷性佝偻病、遗传性低磷性佝偻伴高尿钙症等.磷元素是参与细胞、组织代谢的重要元素.机体内细胞外磷离子通过饮食吸收、肾脏调节以及多种调磷因子作用下,使血磷浓度维持在较低水平.随着近年来医学技术尤其分子诊断技术的不断提高,FGF23是最重要的调磷因子,在低磷性佝偻病的发生发展中有重要作用.该文就低磷性佝偻病的发病机制及治疗进展作简要综述,以提高对低磷性佝偻病的认识.%Hypophosphatemic rickets is a disorder of renal tublular reabsorption of phosphorus,which resulting in bone dysplasia.It is characterized by hypophosphatemia,rickets and limb deformity.Hypophosphatemic rickets may be mainly due to congenital / genetic or secondary to the tumor and other renal tubular disease.Phosphorus is an important element in cell metabolism.Extracellular phosphorus ions maintain the phosphorus concentration at a low level by dietary absorption,kidney regulation and various phosphorus-regulating factors.With the development of molecular biological technologies,forms of renal phosphate wasting diseases have been identified in past years,and FGF23 plays an important role in the disease mechanism.This review aims to overview the studies of the treatment and physiopathology of hypophosphatemic rickets and to enhance the recognition of hypophosphatemic rickets.