临床小儿外科杂志2025，Vol.24Issue(1)：7-12,6.DOI:10.3760/cma.j.cn101785-202410010-002
原发性高草酸尿症与肾结石相关基因检测阴性肾结石患儿的临床特征分析
Clinical phenotypic analysis of primary hyperoxaluria and nephrolithiasis-related gene mutation-nega-tive children
摘要
Abstract
Objective To explore the clinical characteristics of primary hyperoxaluria(PH)and nephroli-thiasis-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,be-tween 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 muta-tion,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 urina-ry metabolism clinical characteristics were recorded.Results As compared with nephrolithiasis-related gene mu-tation-negative individuals,PH children were more prone to nephrocalcinosis(26/54 vs.0/28,P＜0.001).Addi-tionally,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[333.70(24.30,42.50)vs.182.74(45.67,506.30)µg/mg,P=0.044]but lower urinary calcium levels[88.50(42.48,152.29)vs.368.14(230.09,454.87)µg/mg,P＜0.001]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 nephro-calcinosis(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[333.70(169.81,914.58)vs.525.75(194.17,1021.82)vs.185.22(50.11,392.91)µg/mg,P=0.153].Conclusions The clinical manifestations of PH children were more severe than gene mutation-negative counter-parts.And PH3 individuals have milder clinical phenotypes as compared with PH1/PH2 counterparts.关键词
高草酸尿症,原发性/肾结石/外科手术/儿童Key words
Hyperoxaluria,Primary/Nephrolithiasis/Surgical Procedures,Operative/Child引用本文复制引用
齐思宇,葛玉成,赵振强,何龙芝,邓昊鹏,王文营..原发性高草酸尿症与肾结石相关基因检测阴性肾结石患儿的临床特征分析[J].临床小儿外科杂志,2025,24(1):7-12,6.基金项目
北京市医院管理中心临床技术创新项目(XMLX202101) Clinical Medicine Development Grant of Beijing Municipal Hospital Administration(XM-LX202101) （XMLX202101）
