Abstract: TH-PO451
Unraveling the Unknown: A Few Illustrative Examples of the Utility of Genetic Testing for CKD
Session Information
- Genetic Diseases: Glomerulopathies - I
November 02, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Sathiyaraj, Steffi, Houston Methodist, Houston, Texas, United States
- Rodriguez Ortiz, Yariana Emma, Houston Methodist, Houston, Texas, United States
- Edwards, Angelina, Houston Methodist, Houston, Texas, United States
- Shafi, Tariq, Houston Methodist, Houston, Texas, United States
Introduction
Genetic testing can offer critical insight into diagnosing disease states that were previously challenging to identify. In the context of CKD, genetic testing using commercially available panels can provide valuable information to guide personalized treatment decisions. We highlight three cases seen in our clinic over the past six months that illustrate the value of genetic testing for CKD.
Case Description
Case 1: 75- year-old self-identified Black male presented to the clinic with elevated creatinine and significant history of treatment-resistant hypertension and hypokalemia. Subsequent workup was consistent with Primary Hyperaldosteronism (plasma aldosterone-renin ratio, 58). Genetic testing, pursued initially to identify glucocorticoid remediable hyperaldosteronism, revealed a CACNA1H mutation, consistent with Type 4 Familial Hyperaldosteronism.
Case 2: 56-year-old self-identified Black male with a history of ischemic cardiomyopathy and orthotopic heart transplant seven years ago was evaluated for worsening creatinine. A renal biopsy showed secondary focal segmental glomerulosclerosis and hypertensive arteriosclerosis attributed to calcineurin inhibitors. Genetic testing revealed APOL1 homozygosity with G1/G1alleles.
Case 3: 41-year-old self-identified Black female was evaluated for persistent albuminuria and intermittent hematuria over several years with stable serum creatinine. She had no significant medical co-morbidities or family history. Genetic testing revealed COL4A3 mutation, seen with Alport’s syndrome without sensorineural hearing loss.
Discussion
In summary, these cases highlight the tremendous clinical utility of genetic testing in a CKD clinic. As genetic testing technologies continue to advance and emerge for specific renal diseases, such as APOL1-mediated CKD, routine genetic testing for patients with CKD is worth considering.