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Nephrol Dial Transplant (2000) 15: 836-839
© 2000 European Renal Association-European Dialysis and Transplant Association

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

Marjan A. van Dijk1,, Martijn H. Breuning2, Dorien J. M. Peters2 and Peter C. Chang1

1 Department of Nephrology and 2 Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands

Background. Autosomal dominant polycystic kidney disease (ADPKD) shows a variable clinical course that is not fully explained by the genetic heterogeneity of this disease. We looked for a possible genetic modifier, the ACE I/D polymorphism, and its influence on progression towards end-stage renal failure (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 was collected for the determination of the ACE insertion/deletion (I/D) polymorphism genotype. The ACE genotype was also determined in a general, control PKD1 group (n=59).

Results. Patients who reached ESRF <40 years had significantly more early onset hypertension than patients reaching ESRF >60 years (80% vs 21%; P<0.001). 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 47%, II 22%).

Conclusion. There is no relationship between progression towards ESRD and the ACE I/D polymorphism in ADPKD patients.

Keywords: ACE insertion/deletion polymorphism; autosomal dominant polycystic kidney disease; progression

Correspondence and offprint requests to: Marjan A. van Dijk, Department of Nephrology, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.


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