Analysis of clinical diagnosis and treatment of 20 children with hypophosphatemic tickets
10.3760/cma.j.issn.2095-428X.2018.20.005
- VernacularTitle:低血磷性佝偻病20例患儿诊断与治疗分析
- Author:
Lei WU
1
;
Bixia ZHENG
;
Ying CHEN
;
Yugen SHA
;
Qiuxia CHEN
;
Aihua ZHANG
;
Guixia DING
;
Fei ZHAO
;
Huaying BAO
;
Weizhen ZHANG
;
Hongmei WU
Author Information
1. 210008,南京医科大学附属儿童医院肾脏内科
- Keywords:
Hypophosphatemic rickets;
Diagnosis;
Treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(20):1541-1544
- CountryChina
- Language:Chinese
-
Abstract:
Objective 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.
