[Dominant renal polycystic disease]

Autosomal dominant polycystic kidney disease is the third cause of end-stage chronic renal failure (CRF) requiring dialysis and transplantation. Over a 5-year period we collected 21 cases of that disease. The patients' mean age at the time of diagnosis was 48 years and the sex ratio 1.1. Pain was the most frequent signal symptom, being present in 43 p. 100 of the patients. Varying degrees of renal impairment were found in 61 p. 100 of the cases, and arterial hypertension in 38 p. 100. The diagnosis, suspected on clinical grounds, was confirmed by ultrasonography in 95 p. 100 of the patients. Beside CRF and hypertension, the main complications were microscopic haematuria (38 p. 100) and urinary tract infection (24 p. 100). In two patients the disease was associated with hepatic polycystosis. Treatment was symptomatic for CRF (4 patients were put on periodical haemodialysis) and for the other complications. On the basis of this series, we discuss the profile and prognosis of polycystic kidney disease in our environment, and notably its effects on renal function, and we underline the usefulness of familial investigations and the need for genetic counselling.