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


Study provides insight into the genetic landscape of polycystic kidney disease in Ireland
A study has described genetic changes in patients with the most common form of hereditary kidney disease that affects an estimated 12.5 million people worldwide. The research, which focussed on Polycystic Kidney Disease (PKD) in Ireland, provides insights into PKD that will assist doctors and patients in the management of this of inherited condition.
The study, led by researchers from the RCSI University of Medicine and Health Sciences, is published in the
European Journal of Human Genetics.
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In the research, a cohort of 169 patients with PKD in Ireland were analyzed. The genetic changes were identified in up to 83% of cases. It is the first time that the diversity of genetic causes of PKD in Ireland have been described. The results will better assist doctors in identifying patients who may require transplantation or dialysis. The findings also have importa ....

Gianpiero Cavalleri , Peter Conlon , Katherine Benson , Emily Henderson , University Of Medicine , School Of Pharmacy , Biomolecular Sciences , Health Sciences , Polycystic Kidney Disease , European Journal , First Author , Human Genetics , Associate Professor , Consultant Nephrologist , Kidney Disease , பீட்டர் காந்லந் , க்யாதரிந் பென்சன் , எமிலி ஹென்டர்சன் , பல்கலைக்கழகம் ஆஃப் மருந்து , பள்ளி ஆஃப் மருந்தகம் , உயிர் மூலக்கூறு அறிவியல் , ஆரோக்கியம் அறிவியல் , போலய்சிஸ்த்திக் கிட்நீ நோய் , ஐரோப்பிய இதழ் , முதல் நூலாசிரியர் , மனிதன் ஜெநெடிக்ஸ் ,