儿童激素耐药型肾病综合征的基因突变及临床意义OA

Objective To summarize genetic mutation profile in children with steroid-resistant nephrotic syndrome(SRNS)and to analyze the clinical characteristics and prognostic factors of these patients,so as to provide insights for the clinical diagnosis and treatment of SRNS.Methods A total of 67 patients aged＜18 years who were diagnosed with SRNS and underwent whole exome sequencing at the Department of Pediatrics of the First Affiliated Hospital of Guangxi Medical University and the Department of Pediatric Nephrology of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2017 and June 2025 were enrolled.Results Among the patients who underwent whole exome sequencing,50 were male and 17 were female;median age at onset was 35 months;initial drug resistance was observed in 51 cases,while delayed drug resistance was noted in 16 cases.There were 32 cases of simple type and 35 cases of nephritic type,among them,44 cases completed renal biopsy,and the main pathological types included focal segmental glomeruloscle-rosis(FSGS)in 22 cases and minimal change disease(MCD)in 16 cases.Pathogenic gene mutations were detected in 16 patients(23.88％),and the main mutated genes were NPHS2(5 cases),WT1(4 cases),and PAX2(2 cases).The differences in hypertension,serum albumin levels,extrarenal manifestations,the effective rate of immunosuppressive,and renal survival rate between the pathogenic gene mutation group and the non gene mutation group were statistically significant(P＜0.05).In addition,24-hour urinary protein quantification level was significantly positively correlated with poor renal prognosis.Conclusion Approximately one-quarter of children with SRNS have pathogenic gene mutations,and hypertension and extrarenal manifestations are significantly increased in the pathogenic gene mutation group.Pathogenic gene mutations and massive proteinuria may be risk factors for the development of chronic kidney disease in children with SRNS.