A study has described genetic changes in patients with the most common form of hereditary kidney disease affecting approximately 12.5 million people worldwide. The research, which focused on Polycystic Kidney Disease (PKD) in Ireland, provides insight into PKD that will help doctors and patients manage their condition as a legacy.
The study, led by researchers from RCSI University of Medicine and Health Sciences, is published in the European Journal of Human Genetics.
In the study, a cohort of 169 patients with PKD in Ireland were studied. The genetic changes were identified in up to 83% of cases. This is the first time that the multiplicity of genetic causes of PKD has been reported in Ireland. The improved physician findings will help identify patients who may need a referral or dialysis. The findings also have an important impact on people with a family history of PKD who are planning a family or considering a kidney donation.
This study is extremely important in giving us an insight into the genetic landscape of Polycystic Kidney Disease, the most common type of kidney disease in the world.
Our findings influence the prognosis of patients by helping us to further discover why in some cases the disease may progress more rapidly and how we can inherit the burden of inherited kidney disease. reduce in the future. “
Dr. Katherine Benson, First Author of the Study, School of Medicine and Biomolecular Sciences, RCSI
The study was conducted by a team of researchers and clinical scientists led by senior authors Professor Gianpiero Cavalleri, Professor of Human Genetics at RCSI and Professor Peter Conlon, Associate Professor of Treatment at RCSI and Consultant Nephrologist at Beaumont Hospital.
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Magazine Reference:
Benson, KA, et al. (2021) The genetic landscape of polycystic kidney disease in Ireland. European Journal of Human Genetics. doi.org/10.1038/s41431-020-00806-5.