PLCE1 mutation-induced end-stage renal disease presenting with massive proteinuria: a family analysis and literature review.
10.7499/j.issn.1008-8830.2411029
- Author:
Reyila ABASI
1
;
Zhen-Chun ZHU
1
;
Zhi-Lang LIN
1
;
Hong-Jie ZHUANG
1
;
Xiao-Yun JIANG
1
;
Yu-Xin PEI
1
Author Information
1. Department of Pediatric Nephrology and Rheumatology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
- Publication Type:English Abstract
- Keywords:
Child;
End-stage renal disease;
Kidney transplantation;
Medullary sponge kidney;
PLCE1 gene
- MeSH:
Humans;
Male;
Proteinuria/genetics*;
Kidney Failure, Chronic/etiology*;
Child;
Mutation;
Female;
Child, Preschool;
Retrospective Studies;
Phosphoinositide Phospholipase C
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(5):580-587
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES: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.
