Autosomal recessive polycystic kidney disease, formerly called infantile polycystic disease, is a rare disorder with an incidence of one in 40,000 persons to one in 10,000 persons. Often, death occurs at an early age. The cysts are far more common in men than in women. They arise from the renal tubules, especially from the proximal tubules, and vary in size from microscopic to several centimeters in diameter. Although most patients with acquired cystic disease do not have symptoms related to the cysts, some have hematuria, pain, fever with infection, and erythrocytosis.
Renal tumors can develop within the cysts.
The incidence of malignant tumors increases with increasing time on dialysis. Multiple cysts have also been described in patients with hypokalemia and hyperaldosteronism. These cysts may disappear after successful removal of an adrenal adenoma and are usually of no major significance. Nephronophthisis typically occurs in the first two decades of life. Medullary cystic disease presents most often in the third or fourth decade and is typically inherited as an autosomal dominant trait.