The ACE insertion/deletion polymorphism has no influence on progression ofrenal function loss in autosomal dominant polycystic kidney disease

Background. Autosomal dominant polycystic kidney disease (ADPKD) shows a va riable clinical course that is not fully explained by the genetic heterogen eity of this disease. We looked for a possible genetic modifier, the ACE I/ D polymorphism, and its influence on progression towards end-stage renal fa ilure (ESRF). Methods. Forty-nine ADPKD patients who reached ESRF <40 years, and 21 PKD1 patients who reached ESRF >60 years or were not on dialysis at 60 years of age were recruited. Clinical data were provided by questionnaires. Blood wa s collected for the determination of the ACE insertion/deletion (I/D) polym orphism genotype. The ACE genotype was also determined in a general, contro l PKD1 group (n=59). Results. Patients who reached ESRF <40 years had significantly more early o nset hypertension than patients reaching ESRF >60 years (80% vs 21%; P<0.00 1). The ACE genotype distribution showed no differences between the groups of the rapid progressors (DD 20%, ID 56%, II 24%), the slow progressors (DD 29%, ID 52%, II 19%) and the general PKD1 control population (DD 31%, ID 4 7%, II 22%). Conclusion. There is no relationship between progression towards ESRD and t he ACE I/D polymorphism in ADPKD patients.