Autosomal Dominant Polycystic Kidney Disease

recessive forms (1–3), autosomal dominant polycystic kidney disease (ADPKD) with an incidence of 1 : 500 to 1 : 1000 is one of the commonest hereditary diseases (4). Some 5 million people worldwide are affected. In many countries ADPKD is the fourth most frequent cause of end-stage renal failure. About 85% of these diseases are caused by mutations in the PKD1 gene, the remaining 15% are due to PKD2 mutations. On average, one half of the children inherit the mutated gene from their parents and one half of all mutation carriers develop progressive renal insufficiency. Following the onset of disease between the ages of 30 and 50 years, end-stage renal failure is usually reached between the age of 50 and 60 years. At this point the kidneys are massively enlarged and completely interspersed with cysts (figure 1). The initial manifestations and early complications include Microor macrohematuria (50%) Moderate proteinuria (< 1 g/day) Recurrent cyst infections Arterial hypertension (although 30 to 60% of patients then still have a normal glomerular filtration rate [GFR]) Abdominal/flank pain due to compression effects (60%) Moderate polyuria (box 1). There is no increased incidence of renal cell tumors. If they do occur, however, they may often be expected to be bilateral and multifocal.