Study provides insight into the genetic landscape of polycystic kidney disease in Ireland

One study described genetic changes in patients with the most common form of inherited kidney disease, which affects approximately 12.5 million people worldwide. The research, which focused on polycystic kidney disease (PKD) in Ireland, provides information on PKD that will help doctors and patients manage this inherited disease.

The study, led by researchers at RCSI University of Medicine and Health Sciences, is published in the European Journal of Human Genetics.

In the research, a cohort of 169 patients with PKD in Ireland was analyzed. Genetic changes have been identified in up to 83% of cases. This is the first time that the diversity of genetic causes of PKD in Ireland has been described. The results will better help doctors identify patients who may need a transplant or dialysis. The findings also have important implications for people who have a family history of PKD and are planning a family or considering kidney donation.

This study is extremely important in giving us insight into the genetic landscape of polycystic kidney disease, the most common form of inherited kidney disease worldwide.

Our findings have implications for patient prognosis by helping us further identify why the disease may progress faster in some cases and how we may reduce the burden of inherited kidney disease in the future.

Dr Katherine Benson, Study Lead Author, School of Pharmacy and Biomolecular Sciences, RCSI

The study was carried out by a team of researchers and clinician-scientists under the supervision of lead authors, Professor Gianpiero Cavalleri, Professor of Human Genetics at RCSI and Professor Peter Conlon, Associate Professor of Medicine at RCSI and Consultant Nephrologist at Beaumont hospital.