Adult polycystic kidney disease: a Nigerian family study

ABSTRACT

A 48-year old Nigerian male patient with adult polycystic kidney disease (PCK); chronic renal failure and hypertension is presented. Abdominal ultrasound confirmed the presence of multiple bilateral renal cysts together with extrarenal cysts in the liver and spleen. He was subsequently admitted with a cerebrovascular accident. All five of his junior siblings screened were shown to have the disease. His mother was also shown to have PCK; hypertension and renal impairment. The patient had a second fatal cerebrovascular accident five weeks into admission. The presentation of the disease and the implications of the autosomal dominant pattern of inheritance with virtual 100 percent penetrance are discussed. A case is made for anti-marriage counselling; and possibly sterilization in subjects with adult polycystic kidney disease