摘要目的 分析20例低血磷性佝偻病(HR)患儿临床诊断及治疗资料,以提高临床对HR的诊断和治疗水平.方法 回顾性分析2010年5月至2016年4月南京医科大学附属儿童医院收治的20例HR患儿的临床资料,总结其临床特点.20例HR患儿均行X染色体上与内肽酶同源的磷调节基因(PHEX)直接测序,未发现PHEX基因突变的患儿进一步采用多重连接探针扩增技术进行基因分析.结果 20例HR患儿均有不同程度的生长迟缓、双下肢弯曲及典型的X线佝偻病表现.经治疗后临床表现好转,身高标准差数值(HSDS)随治疗时间的延长而明显改善,差异有统计学意义(P=0.027).患儿血磷波动与继发性甲状旁腺功能亢进之间呈正相关(P＜0.05).19例患儿检测到PHEX基因突变,以截断型突变为主,其中4种PHEX基因突变为首次报道.结论 临床表现、实验室及影像学检查是HR诊断的临床指标,PHEX基因检测可作为本病诊断的重要辅助标准,早期诊断、及时治疗可明显改善患儿临床表现.

abstractsObjective To analyze the clinical diagnosis and treatment data of 20 children with hypophosphatemic rickets (HR) in order to improve the clinical diagnosis and treatment of HR.Methods The retrospective analysis of clinical data of 20 cases with HR who were hospitalized at Children's Hospital of Nanjing Medical University from May,2010 to April,2016 was performed to summarize the clinical characteristics.All patients were analyzed for the phosphate regulating gene with homologies to endopeptidase on the X chromosome(PHEX) gene by direct sequencing.If no mutations were detected,multiplex ligation-dependent probe amplification analysis was performed.Results All of the 20 cases with HR showed different degrees of growth retardation and typical X-ray rickets.After treatment,the clinical features were improved.Height standard deviation score (HSDS) was improved significantly with longer treatment time,and the difference was statistically significant(P =0.027).There was a correlation between the blood phosphorus fluctuation and secondary hyperparathyroidism(P ＜ 0.05).Nineteen cases had PHEX gene mutations.Truncating mutations was the most frequent mutation type,and 4 new mutations were found.Conclusions Clinical characteristics,laboratory test results and X-ray examination are important clinical index for the diagnosis of HR,and PHEX gene test can be used as an important auxiliary diagnostic tool.Early diagnosis and treatment can significantly improve the clinical manifestations of the patients.