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ADPKD is the most common hereditary cystic kidney disease. ADPKD is characterized by the progressive development of fluid-filled cysts derived from renal tubular epithelial cells and the development of disorders in several organs. Bilateral renal cysts enlarge progressively, gradually compromising renal function, and finally, end-stage renal disease (ESRD) requiring renal replacement therapy occurs in approximately 50 % of patients by the age of 60 years.The pattern of transmission in ADPKD is autosomal dominant inheritance. A male or female with a mutant allele develops the disease. In case that both parents are unaffected, disease in the offspring results from new mutation.ADPKD is caused by a germ line mutation in PKD1 (16p13.3)(85 % of cases) or PKD2 (4q21)(15 % of cases).

Evidence-based clinical practice guidelines for polycystic kidney disease 2014