Qi Siyu,Ge Yucheng,Zhao Zhenqiang,et al.Clinical phenotypic analysis of primary hyperoxaluria and nephrolithiasis-related gene mutation-negative children[J].Journal of Clinical Pediatric Surgery,,():7-12.[doi:10.3760/cma.j.cn101785-202410010-002]
Clinical phenotypic analysis of primary hyperoxaluria and nephrolithiasis-related gene mutation-negative children
- Keywords:
- Hyperoxaluria; Primary; Nephrolithiasis; Surgical Procedures; Operative; Child
- Abstract:
- Objective To explore the clinical characteristics of primary hyperoxaluria (PH) and nephrolithiasis-related gene mutation-negative children. Methods A retrospective analysis was conducted for the relevant clinical data of 82 children with nephrolithiasis treated at Beijing Friendship Hospital,Capital Medical University,between May 2016 and October 2024.They were assigned into two groups of PH (n=54) and nephrolithiasis-related gene mutation-negative (n=28).The PH group was divided into 3 groups according to different types of gene mutation,which were PH1 group (AGXT gene mutation,n=22), PH2 group (GRHPR gene mutation,n=9)and PH3 group (HOGA1 gene mutation,n=23).The incidence of nephrocalcinosis,serum creatinine concentration and urinary metabolism clinical characteristics were recorded. Results As compared with nephrolithiasis-related gene mutation-negative individuals,PH children were more prone to nephrocalcinosis (26/54 vs.0/28,P<0.001).Additionally,PH children had higher serum creatinine levels [42.35(32.43,54.65) vs.34.00 μmol/L,P=0.007) and urinary oxalate/creatinine ratios but lower urinary calcium levels than nephrolithiasis-related gene mutation-negative counterparts.Among PH subtypes,PH3 individuals exhibited milder clinical phenotypes as compared with PH1/PH2 counterparts.PH3 individuals had the lowest incidence of nephrocalcinosis (4/23 vs.19/22 vs.3/9,P<0.001,PH3 vs.PH1 vs.PH2),the lowest serum creatinine [32.80(29.50,43.85) vs.48.62(41.55,74.26) vs.49.22(36.28,65.51) μmol/L,P=0.006]and the highest urinary calcium/creatinine ratio [113.27(49.56,237.17) vs.53.10(26.56,115.05) vs.54.87(12.39,107.97) μg/mg,P=0.043).No statistically significant differences existed in urinary oxalate/creatinine ratios among PH subtypes. Conclusions The clinical manifestations of PH children were more severe than gene mutation-negative counterparts.And PH3 individuals have milder clinical phenotypes as compared with PH1/PH2 counterparts.
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Memo
收稿日期:2024-10-8。
基金项目:北京市医院管理中心临床技术创新项目(XMLX202101)
通讯作者:王文营,Email:miniaowwy@aliyun.com