Autosomal Dominant Polycystic Kidney Disease

Abstract

Pierre Rayer first described the cystic degeneration of the kidneys in 1841. Later Felix Lejars formally coined the term “polycystic kidney disease” in 1888. However, to date, autosomal dominant polycystic disease (ADPKD) is still a disease without cure despite representing the most common monogenic cause of renal failure. Research accelerated after PKD1 and PKD2 were identified in 1994 and 1996, several underlying mechanisms that cause ADPKD have been elucidated, and major advancements in diagnosing, prognosticating, and understanding the natural course of the disease resulted in the approval of the first likely disease-modifying treatment in vasopressin V2 receptor antagonists. Awareness is growing that the clinical course of ADPKD begins in childhood and the wind of change in the management of more nephron-protective strategies and lifestyle modifications with early referral and follow-up are evolving. This chapter aims to deeply describe the genetic background, pathophysiology, clinical manifestations, and main therapeutic options including the future perspective. The currently accepted views on the optimal management in childhood ADPKD with regard to ethical and practical aspects will be summarized.