Abstract

Genetic disorders of the kidney in children encompass a diverse group of conditions that can lead to significant morbidity and mortality. These disorders include polycystic kidney disease (PKD), which features multiple renal cysts; nephronophthisis, characterized by fibrosis and cyst formation; Alport syndrome, which affects type IV collagen and results in renal and auditory issues; and congenital anomalies of the kidney and urinary tract (CAKUT), which involve various structural abnormalities. Advances in genetic research have significantly enhanced our understanding of these diseases, enabling the development of improved diagnostic methods and potential therapeutic approaches. This article provides a comprehensive overview of the major genetic kidney disorders in children, detailing their pathophysiology, clinical manifestations, diagnostic strategies, and current treatment options to guide effective management.