Clinical management of polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disease with various extrarenal manifestations. Subarachnoid haemorrhage from intracranial aneurysms is the most serious extrarenal complication; screening with magnetic resonance angiography should be offered to ADPKD patients with a family history of brain haemorrhage. Mutations in two different genes, PKD1 on chromosome 16 and PKD2 on chromosome 4 cause ADPKD. Clinically, the two conditions are indistinguishable, but overall PKD1 is more severe. The diagnosis of ADPKD still relies on ultrasound, with clearly defined criteria according to the number of renal cysts. False negative scans occasionally occur under the age of 30. Hypertension and left ventricular hypertrophy are common early complications; cardiovascular disease is the leading cause of death in ADPKD. Kidney failure generally occurs around age 55. There is no specific treatment which is known to slow down the decline in renal function. In contrast to other renal conditions, angiotensin-converting enzyme inhibitors are not superior to other drugs in slowing progression to renal failure in ADPKD.