Comment:

This man suffered from an inherited condition known as adult polycystic kidney disease. The mechanism of inheritance is autosomal dominant (i.e. the child of an affected parent has a 50% chance of inheriting the disease). The abnormal gene is located on the short arm of chromosome 16. The defect is currently thought to result in excessive renal tubular cell proliferation. Copious secretion of fluid into the tubules as well as impaired connective tissue support contribute to the development of cysts. The cysts gradually enlarge, and interfere with renal function by compression of the normal filtering units (nephrons). The disease is often silent until loss of nephrons results in renal failure, usually in adulthood. Complications include bleeding into the cysts and recurrent infections, as occurred in this man. In about 40% of cases, there are also multiple cysts in the liver. Less frequently, cysts occur in the pancreas, spleen and lungs. "Berry" aneurysms of cerebral arteries occur in 10-30% of cases.