genitourinary disorders
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Key Points
Autosomal dominant polycystic kidney disease occurs in about 1/1000 people. About half of patients have no manifestations, but in others symptoms of back or abdominal pain, hematuria and/or hypertension develop gradually, usually beginning before age 30; 35 to 45% develop renal failure by age 60. Extrarenal manifestations are common and include cerebral and coronary artery aneurysms, cardiac valve disease, and cysts in the liver, pancreas, and intestines. Diagnose PKD based on imaging studies and clinical findings, reserving genetic testing for patients with no family history or with inconclusive results on imaging, or in young patients where the results may affect kidney donor eligibility. Expert opinion is advised prior to obtaining genetic testing due to various implications. Do not routinely screen asymptomatic patients for ADPKD or asymptomatic patients who have ADPKD for cerebral aneurysms. Arrange genetic counseling for 1st-degree relatives of patients with ADPKD. Give ACE inhibitors or angiotensin receptor blockers for hypertension and to help prevent renal scarring and dysfunction; treat other complications as they arise, and consider use oftolvaptan. 