Autosomal Dominant Polycystic Kidney Disease: A Comprehensive Review

Background and Aims: Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of end stage renal disease and accounts for a substantial number of dialysis and transplant patients worldwide. Studies over the years have revealed precious information about the disorder’s genetic profile, pathogenesis, systemic manifestations and its progression. An increased understanding of these aspects has enabled the development of clinical trials and potentially effective treatments. Relevant data on this topic was procured and synthesized with the aid of a comprehensive Medline search in addition to nephrologic and urologic literature review on ADPKD. The article provides an in-depth review into the natural history and pathogenesis of ADPKD; various clinical manifestations; progression of the disease; accuracy, reliability and need of screening and diagnostic procedures in different age groups; and novel therapeutic approaches that are being evaluated in ADPKD. Keywords: Polycystic Kidney, Autosomal Dominant