Adult Polycystic Kidney Disease with Cardiovascular Assault / 대한법의학회지

ABSTRACT

Adult polycystic kidney disease is a genetic disease characterized by bilateral multiple renal cysts and is transmitted as an autosomal dominant traits. The disease usually manifests in the fourth decade of life. The affected patients usually die with end stage renal failure, cardiovascular assaults and infection etc. Cardiovascular assaults include ruptured berry aneurysm, spontaneous intracranial hemorrhage, acute myocardial infarction, dissecting aortic aneurysm and hypertensive heart failure. Fatal intracranial hemorrhage and hypertensive heart failure occur in 15% and 2% of patients, respectively. Genetically-determined structural weakness in the arterial wall have been suggested as a possible factor in the genesis of berry aneurysm. We have experienced three autopsy cases with cardiovascular causes of sudden death. Two cases have intracranial hemorrhage (1 berry aneurysm and 1 intracerebral hemorrhage) and the remaining one is dead with hypertensive cardiomyopathy. All of them are aged over 40 years and associated with polycystic liver disease. Histologically, myriad cysts of enlarged bilateral kidney are lined by single layer of cuboidal cells with focal hyperplastic epithelial configuration. Diffusely scattered liver cysts are also lined by flat to cuboidal epithelium and often associated with portal fibrosis.