Abstract
Congenital Nephrotic Syndrome (CNS) is defined as nephrotic range proteinuria, hypoalbuminaemia and edema in the first three months of life. CNS is most commonly genetic in cause, with international variance in the incidence of causative mutations. Initially defined by the histopathological appearance, increasingly sophisticated and accessible genetic analyses now provide a body of evidence to suggest that there is a disparity between the histological appearance, the genotype of individuals and the severity of the clinical disease. Through the evolution of management approaches CNS has changed from being an invariably fatal condition to one with appreciable ongoing morbidity and mortality but comparably good outcomes to other causes of paediatric end-stage renal disease, especially following transplantation. This review briefly summarises the more commonly recognised genetic mutations leading to CNS, addresses common management decisions, and concludes with potential therapies for the future.