Researchers trace a common genetic root for kidney disease in italian families
NCT ID NCT06594367
Summary
This was an observational study that aimed to understand if a specific genetic change (a deletion in the PKD2 gene) found in 10 patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) came from a common ancestor in the Bergamo province of Italy. Researchers analyzed the DNA of these patients and their family histories to see how this specific genetic change was linked to the different ways the disease appeared, from mild to more severe cases. The goal was to improve genetic diagnosis and counseling for affected families.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes NO responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD) are added.
By submitting, you agree to our Terms of use
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Locations
-
Clinical Research Centre for Rare Diseases Aldo e Cele Daccò
Ranica, BG, 24020, Italy
Conditions
Explore the condition pages connected to this study.