Autosomal Dominant PKD
Autosomal dominant polycystic kidney disease (ADPKD) is the common adult form and one of the most frequent inherited kidney diseases. Most cases result from mutations in PKD1 (with more severe, earlier disease) or PKD2. Cysts develop and enlarge over decades, causing bilaterally enlarged kidneys, hypertension, flank pain, hematuria, and progressive decline toward end-stage kidney disease, often by middle age.
Extrarenal Features
ADPKD is a systemic disease with important extrarenal manifestations that are high-yield: cerebral (berry) aneurysms, which can rupture and cause subarachnoid hemorrhage; hepatic and pancreatic cysts; mitral valve prolapse and other valvular disease; and colonic diverticula. A family history of aneurysm rupture raises the threshold for screening with cerebral imaging.
Autosomal Recessive PKD
Autosomal recessive polycystic kidney disease (ARPKD) is a much rarer, more severe form that typically presents in infancy or childhood. It is caused by mutations in the PKHD1 gene and is associated with congenital hepatic fibrosis. Severely affected newborns can have pulmonary hypoplasia from oligohydramnios, and the disease carries a poor prognosis in its most severe forms.
Diagnosis and Management
Diagnosis is usually made with ultrasound showing multiple bilateral cysts, interpreted with age-based criteria and family history; genetic testing is used in selected cases. Management focuses on controlling blood pressure (often with ACE inhibitors or ARBs), treating infections and stones, and managing pain. The vasopressin antagonist tolvaptan can slow cyst growth and functional decline in appropriate ADPKD patients, and end-stage disease requires dialysis or transplant.