Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic

Genes, Journal Year: 2025, Volume and Issue: 16(4), P. 408 - 408

Published: March 31, 2025

Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% cases kidney disease (CKD). Confirming a genetic diagnosis can influence management; however, the utility testing older adults remains poorly understood, partly due to age-based restrictions on access. To better evaluate diagnostic yield clinical this population, we analyzed data from aged ≥50 years with CKD who were assessed specialized genetics clinic. Methods: We studied cohort 125 at time testing. included gene panels targeting disease-related genes based phenotype, and/or exome sequencing additional monogenic if initial panel was inconclusive. Results: Pathogenic variants identified 38% patients. The highest (48%) patients 50–54 years. most common post-testing glomerulopathies (32%). Clinical utility, shown through case series, modifications treatment management, as well reduction odyssey. Conclusions: Our findings dedicated Kidney Genetics Clinic show that has significant utility. These results support guideline recommendations there should be no upper age limit Future research unselected populations is needed establish broader applicability feasibility adults.

Language: Английский

Complement-Mediated Kidney Disease and Living Donor Transplantation: Tailoring Approaches to Improve Outcomes

Current Transplantation Reports, Journal Year: 2025, Volume and Issue: 12(1)

Published: April 16, 2025

Language: Английский