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-negative children

作　　者：齐思宇 葛玉成 赵振强 何龙芝 邓昊鹏 王文营[1] Qi Siyu;Ge Yucheng;Zhao Zhenqiang;He Longzhi;Deng Haopeng;Wang Wenying(Department of Urology,Beijing Friendship hospital,Capital Medical University/Institute of Urology,Beijing Municipal Health Commission,Beijing 100050,China)

机构地区：[1]首都医科大学附属北京友谊医院泌尿外科、北京市卫生健康委员会泌尿外科研究所,北京100050

出　　处：《临床小儿外科杂志》2025年第1期7-12,共6页Journal of Clinical Pediatric Surgery

基　　金：北京市医院管理中心临床技术创新项目(XMLX202101)。

摘　　要：目的分析原发性高草酸尿症(primary hyperoxaluria, PH)与肾结石相关基因检测阴性的肾结石患儿临床特点。方法回顾性分析2016年5月至2024年10月首都医科大学附属北京友谊医院收治的82例肾结石患儿临床资料, 根据基因检测结果分为PH组(54例)和肾结石相关基因检测阴性组(28例), 其中PH组再根据突变基因的不同分为PH1组(AGXT基因突变, 22例)、PH2组(GRHPR基因突变, 9例)和PH3组(HOGAI基因突变, 23例)。收集患儿的临床数据, 包括肾钙质沉着症发生率、血肌酐浓度和尿代谢水平等, 并对上述指标进行分组分析。结果 PH组和肾结石相关基因检测阴性组相比, 更易出现肾钙质沉着症(26/54比0/28, P<0.001), 同时PH组血肌酐浓度[42.35(32.43, 54.65)μmol/L比34.00(24.30, 42.50)μmol/L, P=0.007]和尿草酸/尿肌酐浓度比[333.70(166.40, 858.11)μg/mg比182.74(45.67, 506.30)μg/mg, P=0.044]均高于肾结石相关基因检测阴性值, 尿钙/尿肌酐浓度比低于肾结石相关基因检测阴性组[88.50(42.48, 152.29)μg/mg比368.14(230.09, 454.87)μg/mg, P<0.001];PH3组比PH1和PH2组症状更轻, 其中PH3组肾钙质沉着症率最低(PH3组比PH1组比PH2组:4/23比19/22比3/9, P<0.001), 血肌酐浓度最低[PH3组比PH1组比PH2组:32.80(29.50, 43.85)μmol/L比48.62(41.55, 74.26)μmol/L比49.22(36.28, 65.51)μmol/L, P=0.006], 尿钙/尿肌酐浓度比最高[PH3组比PH1组比PH2组:113.27(49.56, 237.17)μg/mg比53.10(26.56, 115.05)μg/mg比54.87(12.39, 107.97)μg/mg, P=0.043]。三种PH亚型间尿草酸/尿肌酐浓度比差异无统计学意义[PH3组比PH1组比PH2组:333.70(169.81, 914.58)μg/mg比525.75(194.17, 1021.82)μg/mg比185.22(50.11, 392.91)μg/mg, P=0.153]。结论 PH患儿的临床表现较肾结石相关基因检测阴性肾结石患儿严重, PH3患儿的临床表现较PH1和PH2患儿轻。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.34.00μmol/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 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 [333.70(169.81,914.58)vs.525.75(194.17,1021.82)vs.185.22(50.11,392.91)μg/mg,P=0.152].Conclusions The clinical manifestations of PH children were more severe than gene mutation-negative counterpa

关 键 词：高草酸尿症 原发性 肾结石 外科手术 儿童 

分 类 号：R69[医药卫生—泌尿科学]