Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.

ABSTRACT: While nephronophthisis (NPHP) classically manifests as mild tubular proteinuria, emerging evidence reports nephrotic-range proteinuria with edema. This study aims to explore the phenotypes and genotypes of pediatric NPHP patients with different levels of proteinuria. Twenty-one children with NPHP were recruited into this single-center cohort. They were divided into two groups according to proteinuria levels: group A (mild proteinuria, n = 12) and group B (moderate-to-heavy proteinuria, n = 9). The median age at symptom onset was 7.4 years (IQR 2.4-12.8). By the end of follow-up, 20 patients had progressed to ESRD at a median age of 9.8 years (IQR 5.8-12.9). Patients in group B exhibited significantly higher prevalence of family histories, hypertension, edema, and higher urine

SUBMITTER: Chen Q 

PROVIDER: S-EPMC12710272 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature