PLCE1 mutation-induced end-stage renal disease presenting with massive proteinuria:a family analysis and literature review
10.7499/j.issn.1008-8830.2411029
- VernacularTitle:以大量蛋白尿起病的PLCE1基因突变致终末期
- Author:
Abasi REYILA
1
;
Zhen-Chun ZHU
1
;
Zhi-Lang LIN
1
;
Hong-Jie ZHUANG
1
;
Xiao-Yun JIANG
1
;
Yu-Xin PEI
1
Author Information
1. 中山大学附属第一医院儿童肾脏风湿病中心,广东 广州 510080
- Publication Type:Journal Article
- Keywords:
End-stage renal disease;
Kidney transplantation;
Medullary sponge kidney;
PLCE1 gene;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(5):580-587
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the clinical and genetic characteristics of end-stage renal disease caused by PLCE1 gene mutations.Methods A retrospective analysis of the clinical and genetic features of three children from a family with PLCE1 gene mutations was conducted,along with a literature review of hereditary kidney disease cases caused by PLCE1 gene mutations.Results The proband was an 8-year-old male presenting with nephrotic syndrome stage 4 chronic kidney disease.Renal biopsy showed focal segmental glomerulosclerosis.Two years and five months after kidney transplantation,the patient had persistent negative proteinuria and normal renal function.Whole-exome sequencing identified two pathogenic heterozygous variants:c.961C>T and c.3255_3256delinsT,with c.3255_3256delinsT being a novel mutation.Family screening revealed no renal involvement in the parents,but among five siblings,one brother died at age of 4 years from end-stage renal disease.A 7-year-old sister presented with proteinuria and bilateral medullary sponge kidney,with proteinuria resolving after one year of follow-up.A 3-year-old brother died after kidney transplantation due to severe pneumonia.The literature review included 45 patients with hereditary kidney disease caused by PLCE1 gene mutations.The main clinical phenotype was nephrotic syndrome(87%,39/45),and renal pathology predominantly showed focal segmental glomerulosclerosis(57%,16/28).No mutation hotspots were identified.Conclusions Compound heterozygous mutations in the PLCE1 gene can lead to rapid progression of the disease to end-stage renal disease,with favorable outcomes following kidney transplantation.Family screening is crucial for early diagnosis,and medullary sponge kidney may be a novel phenotype associated with these gene mutations.Citaion:[Chinese Journal of Contemporary Pediatrics,2025,27(5):580-587]
