LATE OCCURRENCE OF CYSTS IN AUTOSOMAL-DOMINANT MEDULLARY CYSTIC KIDNEY-DISEASE

Medullary cystic kidney disease (MCD) is characterized by multiple ren al cysts at the corticomedullary boundary area, by autosomal dominant inheritance, and by onset of chronic renal failure in the third decade of life. We report on a family with three affected individuals of bot h sexes in two generations presenting with end-stage renal failure at age 22-31 years. Primarily diagnoses considered included unclassified hereditary nephropathy and autosomal dominant polycystic kidney diseas e. Careful evaluation of all findings, initiated after investigation o f renal morphology with CT, revealed features characteristic for MCD a nd led to the final diagnosis of MCD. We conclude that MCD is an impor tant differential diagnosis for polycystic kidney disease in young adu lts with end-stage renal failure. Establishing the correct diagnosis h as considerable impact for genetic counselling.