Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease characterized by the presence of cysts on any part of the renal tubules. It is the most common form of polycystic kidney disease, the prevalence being estimated at 1/1000. It is thus not a rare disease. Affected children can have macro or microscopic hematuria, arterial hypertension, cyst infection and renal insufficiency. Most families have a defect in the PKD1 gene on chromosome 16, and a smaller proportion in the PKD2 gene on chromosome 4. Antenatal ultrasonography can show enlarged hyperechogenic kidneys or macrocysts. Renal cyst infection represents a difficult problem and requires aggressive antibiotic therapy.
Last update: February 2007