Rare forms of autosomal dominant tubulointerstitial kidney disease in children: a retrospective case series from Oman

This study aims to characterize rare forms of autosomal dominant tubulointerstitial kidney disease (ADTKD) in children, particularly in the context of limited genetic testing access in Oman. The authors report on five pediatric patients with genetically confirmed rare ADTKD variants, expanding the known clinical features associated with these conditions, including the identification of hypomagnesemia in REN-related disease and the novel association of epilepsy with SEC61A1-related ADTKD. The findings emphasize the critical need for early genetic testing to improve diagnosis and management in affected children.