Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia
Monogenic causes were identified in 35 of 54 (64.81%) Saudi pediatric patients with NL/NC who underwent genetic testing, a prevalence higher than reported internationally, likely due to the high consanguinity rate. Our findings underscore the importance of genetic testing in early-onset NL/NC. We recommend adding MOCS1 to the list of genes associated with monogenic NL/NC.
Authors
- Raghad Alhuthil (ORCID: https://orcid.org/0000-0001-6677-0452)
- Weiam Almaiman
- Zuhair Rahbeeni (ORCID: https://orcid.org/0000-0002-6890-1652)
- Sermin Saadeh (ORCID: https://orcid.org/0000-0003-4961-4903)
- Essam Al‐Sabban
- Turki Alshareef (ORCID: https://orcid.org/0000-0003-2603-9299)
- Faten Zaidan
- Bashaer Alluhaybi
- Hadel Alsubaie
Institutions
- Alfaisal University (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
Publication Details
- Journal
- Pediatric Nephrology
- Published
- 2025-11-07
- DOI
- https://doi.org/10.1007/s00467-025-07018-3
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 0.00