Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study - PubMed
5 days ago
- #kidney cysts
- #genetic disorders
- #pediatric nephrology
- Pediatric kidney cysts may indicate underlying genetic disorders, but the full spectrum of causes is not fully defined.
- This observational cohort study evaluated 109 pediatric patients (median age 7.6 years, 53% female) with kidney cysts using comprehensive genetic testing.
- Genetic testing identified a definitive diagnosis in 81 of 100 tested patients (81%), with PKD1 variants being the most common (45%).
- Other genetic causes included PKD2 (7%), HNF1B or 17q12 deletions (13%), minor ADPKD genes (11%), monoallelic-PKHD1 (3%), biallelic PKHD1 (8%), and syndromic ciliopathy genes (5%).
- A positive family history strongly correlated with a genetic diagnosis (54% vs. 11%).
- Patients without a genetic diagnosis more often had unilateral cysts (26% vs. 4%).
- The study supports early genetic evaluation to improve diagnostic accuracy, inform prognosis, and guide management, even without family history.