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Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.
C P Thomas1,2,3, M A Mansilla4, R Sompallae4
1Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA.
Summary
A new genetic panel efficiently screens for kidney disease genes in living kidney donors and transplant candidates. This tool helps identify genetic risks, ensuring donor safety and improving transplant outcomes.
Area of Science:
- Nephrology
- Genetics
- Medical Diagnostics
Background:
- Related living kidney donors (LKDs) face a higher risk of end-stage renal disease (ESRD) than unrelated donors.
- Genetic factors contribute significantly to renal diseases, necessitating accurate screening methods.
Observation:
- A panel screening 115 renal disease-associated genes was applied to transplant candidates and related LKDs.
- Genetic variants were analyzed for pathogenicity using computational algorithms and clinical data.
Findings:
- Causal variants were identified in three of four transplant candidates, including PKD1 variants in two patients with autosomal dominant polycystic kidney disease.
- A pathogenic COL4A5 splice site mutation was found in a patient with atypical Alport syndrome, excluding a sibling as an LKD.
- A negative genetic screen, alongside other tests, facilitated donor counseling in a case with a strong family history of ESRD.
Implications:
- The genetic panel enables rapid, efficient, and cost-effective evaluation of related LKDs.
- Accurate genetic risk assessment can enhance donor safety and inform clinical management decisions.
- This approach aids in excluding at-risk individuals from donation, thereby optimizing kidney transplantation outcomes.
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