Analysis of clinical phenotype and genotype of PAX2 mutation in Chinese children

Objective To analyze and summarize the clinical,genotypic and pathological characteristics of children with PAX2 gene mutation in China,and to provide information for the monitoring,treatment and prognosis of the disease.Methods It was a case series analysis study.The clinical data of children with PAX2 gene mutation in Pediatric Nephrology Department,TongijHi ospital Affiliatedd toTongji MedicalCollege,HIuazhong University of Science and Technology from January 2014 to December 2022 were collected,and peripheral blood gene DNA was extracted and sequenced for whole exome sequencing.The clinical,pathological and genotypic characteristics of PAX2 gene variation of children in China were summarized by searching PubMed,Medline,China National Knowledge Infrastructure and Wanfang database and compared with the cases in this single center.Results Among the 13 children with PAX2 gene mutation,there were 9 males and 4 females,12 patients with abnormal urine tests,7 patients with small kidney volume by imaging examination,and 5 patients with renal cysts.The clinical phenotypes were congenital renal and urinary tract malformations in 8 cases,renal coloboma syndrome in 1case,and hematuriaor proteinuria in 3 cases.Five patients underwent renal biopsies,showing focal segmental glomerulosclerosis and C33glomerulopathy in1 case,focal segmental glomerulosclerosis in 1 case,thin basement membrane lesion in 1 case,and IgA nephropathy in 2 cases.