低磷酸盐血症性佝偻病7例临床及基因分析
Clinical and genetic analysis of 7 children with hypophosphatemic rickets
宋丽丽 1王莲 2杨淑萍 1徐玲玲 2李晓钰 1马立燕2
作者信息
- 1. 宁夏医科大学第一临床医学院,宁夏银川 750004
- 2. 宁夏医科大学总医院儿科,宁夏银川 750004
- 折叠
摘要
目的 探讨X-连锁显性低磷酸盐血症性佝偻病患儿临床特征、PHEX基因的变异特点及治疗.方法 回顾性分析2017年8月至2023年8月于宁夏医科大学总医院确诊的7例X-连锁显性低磷酸盐血症性佝偻病患者的临床资料,并对其进行二代高通量PHEX基因测序,同时分析相关资料.结果 7例患儿血磷均明显降低,24h尿磷及血清碱性磷酸酶(ALP)均增高,2例血甲状旁腺激素(PTH)略增高,2例血钙偏低,影像学均显示不同程度佝偻病征象,均存在基因突变,2 例为新发突变(c.1366T＞C、c.187+1G＞A),3 例突变罕见(c.1426G＞A、c.1880G＞A、c.2147+1G＞A),7例突变国内均未见相关病例报道.7例患儿均予磷酸盐合剂治疗并定期随访.结论 有明显佝偻病体征的患儿,应及时常规行血磷、24h尿磷及ALP测定,并早期完善二代测序PHEX基因检测,避免误诊误治.Burosumab临床未广泛使用情况下,磷酸盐合剂仍是目前首选治疗制剂.
Abstract
Objective To investigate the clinical characteristics,variations in PHEX gene and treatment of children with X-linked dominant hypophosphatemic rickets.Methods The clinical data of 7 patients with X-linked dominant hypo-phosphatemic rickets diagnosed in General Hospital of Ningxia Medical University from August 2017 to August 2023 were retrospectively analyzed,and the second-generation high-throughput PHEX gene sequencing was implemented and the rele-vant data were also analyzed.Results 7 cases of pediatric patients showed a significant decrease in serum phosphorus and increase in 24-hour urine phosphorus and blood alkaline phosphatase.Among them,2 cases of pediatric patients had a slight in-crease in blood parathyroid hormone and 2 cases had low blood calcium.The imaging showed signs of rickets in different degrees and all of which had gene mutations.In addition,2 cases of patients were de novo mutations(C.1366T＞C,C.187+1G＞A),and 3 cases were rare mutations(c.1426G＞A,c.1880G＞A,c.2147+1G＞A).But none of the seven mutations had been reported in China.Eventually,7 patients were treated with phosphate mixture and followed up regularly.Conclusion Children with obvious signs of rickets should be routinely measured in terms of serum phosphorus,24-hour urine phosphorus and ALP in a timely manner,and second-generation sequencing PHEX gene detection should be improved as early as possible to avoid misdiagnosis and mistreatment.In the absence of widespread clinical use of Burosumab,phosphate mixture is still the preferred therapeutic agent at present.
关键词
低磷酸盐血症性佝偻病/PHEX基因/血磷/儿童Key words
hypophosphatemic rickets/PHEX gene/serum phosphorus/child引用本文复制引用
基金项目
宁夏回族自治区重点研发项目(2021BEG03035)
出版年
2024
NETL
NSTL
万方数据