| BackgroundEnd-stage renal disease(end stage renal disease,ESRD)refers to the end stage of various chronic kidney diseases(chronic kidney disease,CKD),that the glomerular filtration rate(GFR)is less than 15 m L/(min·1.73m~2)and needs to rely on renal replacement therapy to maintain life.Studies have shown that CKD in children is related to congenital and hereditary factors.It is known that about 20%of children with early-onset CKD can determine the cause of single gene mutation by genetic testing.However,there are few reports on the relationship between ESRD and gene variation.To study the relationship between ESRD and gene variation in Chinese children.We analyze the clinical,pathological and genetic variation of ESRD children in Puyang Oilfield General Hospital from January 2010 to December 2019.Objective to explore the clinical and genetic causes of ESRD in children,enrich the gene variation spectrum of ESRD and guide clinical practice.Objective1.To analyze the etiological composition,clinical features,renal biopsy pathology,clinical treatment,prognosis and prognosis of children with ESRD,and to summarize the clinical characteristics of the progression of children with CKD to ESRD.2.To analyze the characteristics of clinical phenotype and genotype of children with ESRD,so as to provide reference for the diagnosis and treatment of hereditary related CKD children,so as to facilitate early diagnosis and timely intervention and delay the progression of the disease.Methods1.By consulting the electronic case system,29 clinical cases of ESRD treated in Puyang Oilfield General Hospital affiliated to Xinxiang Medical College from January2010 to December 2019 were analyzed retrospectively.2.Whole exome sequencing was performed in 14 children with ESRD and their clinical characteristics were analyzed.Results1.The age of first visit was 0.6-16 years old,and the age of 29 children with ESRD was 1.4-19.9 years old.The pathogenesis was analyzed,including 8 cases of steroid resistant nephrotic syndrome(steroid-resistant nephrotic syndrome,SRNS),6 cases of chronic glomerulonephritis(chronic glomerulonephritis,CGN),5 cases of cystic nephropathy,4 cases of Alport syndrome(Alport syndrome,AS),2 cases of congenital renal and urinary tract malformation((congenital anomalies of the kidney and urinary tract,CAKUT),1 case of systemic lupus erythematosus nephritis and 3 cases of unknown etiology.2.Renal biopsy was performed in 11 cases with a biopsy rate of 37.9%.Among them,6 cases showed focal segmental glomerulosclerosis(FSGS).3.Based on the analysis of renal replacement therapy in children with ESRD,65.5%of them chose dialysis treatment,including peritoneal dialysis(peritoneal dialysis,PD)and hemodialysis(hemodialysis,HD),in which most of them underwent HD.In addition,there are fewer children who choose kidney transplantation,accounting for only 13.8%.4.WES were performed in 16 cases of ESRD.11 different pathogenic genes were detected in 12 cases,and the positive rate was 75%.In 12 cases of ESRD,one case was diagnosed as AS detected pathogenic genes:COL4A5,four cases were early diagnosed unknown etiology,through WES found pathogenic genes:WT1,ANKS6,NPHP1,COL4A5,four cases were diagnosed as SRNS pathogenic genes:NPHS1,TRPC6,PAX2,COL4A3,two cases were diagnosed as CGN pathogenic genes:ADCK4,LMX1B,one case was diagnosed as cystic nephropathy,detected pathogenic gene:PKHD1.No definite pathogenic gene was detected in three children with clinically diagnosed SRNS and one child with cystic kidney disease.Conclusions1.SRNS is the main cause of ESRD in children and adolescents in our hospital.Most children choose renal replacement therapy for PD and HD,and a few children receive renal transplantation.2.This study suggests that the majority of children with ESRD before 18 years old are caused by single gene mutation. |
