Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia.

ABSTRACT:

Background

Nephrolithiasis (NL) and nephrocalcinosis (NC) are common, recurrent conditions globally. While monogenic causes are increasingly recognized, data on their prevalence and spectrum remain limited in Saudi pediatric populations.

Methods

This retrospective cross-sectional study was conducted in our tertiary care center from January 2008 to April 2023. Pediatric patients (0-18 years) with radiologically confirmed NL/NC who underwent genetic testing were included. Clinical, biochemical, radiological, and genetic data were analyzed. Genetic variants were classified using ACMG criteria, and segregation analysis was performed when available.

Results

Of 186 pediatric patients diagnosed with NL/NC, 54 (29.03%) underwent genetic testing. Median age at diagnosis was 3 

SUBMITTER: Alsubaie H 

PROVIDER: S-EPMC12852217 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature