Autosomal polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic kidney disease. The clinical course is highly variable, association to certain genetic mutations only weak. Great progress has been made in recent years in determining the pathophysiology of the disease. Diagnosis of ADPKD is almost always possible by ultrasound, genetic examination is confined to selected cases. In addition, imaging is important for prognosis where MRI and computer tomography are superior for determination of total kidney volume. Until recently, supportive therapy has been the only available therapeutic option. This includes optimal antihypertensive therapy with a goal blood pressure below 110/75 mm mercury, at least with normal renal function and without any other contraindication. In addition, fluid intake should be increased to 2.5-4 l per day. Finally, tolvaptan is available as a specific therapy in selected countries. This therapy should be restricted to cases with rapid progressive and early renal failure due to costs and side effects. The value of this agent in later stages of chronic renal failure is currently being evaluated in clinical studies. Additional specific therapies are in early clinical evaluations.