ASN's Mission

To create a world without kidney diseases, the ASN Alliance for Kidney Health elevates care by educating and informing, driving breakthroughs and innovation, and advocating for policies that create transformative changes in kidney medicine throughout the world.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005

email@asn-online.org

202-640-4660

The Latest on Twitter

Kidney Week

Abstract: SA-PO548

Genetic Variances in Mesoamerican and Undocumented Immigrant ESRD Patients

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Obayomi, Mobolaji Ayodeji, Westchester Medical Center, Valhalla, New York, United States
  • Fullmer, Jessie C., Westchester Medical Center, Valhalla, New York, United States
  • Fan, Henry Jingyuan, Westchester Medical Center, Valhalla, New York, United States
  • Coritsidis, George N., Westchester Medical Center, Valhalla, New York, United States
Background

Dialysis clinics in the New York area treat a large population of undocumented immigrants (UIs) who originate or have heritage from Central and Northern South America, where renal failure includes the not yet understood Mesoamerican Nephropathy. Many are in the US for up to 6 years before awareness of CKD, often too late for proper diagnosis of pathogenesis. We were interested to see if certain underlying genetic mutations were more commonly found in UIs.

Methods

Patients were recruited prospectively from 5 dialysis units in New York from 2/1/22 focusing on patients whose heritage was from Latin America. Patients’ buccal swabs were processed via Renasight genetic screening kits, which looks at 385 different genes related to kidney disease. The test is performed via buccal swab. Results are logged as pathogenic, carriers, or variants of unknown significance (VUS).

Results

Of 89 patients screened, 94.6% were UI’s and 27.6% were under age 40. Overall positivity for pathogenic genes was 14% and 42% identified as carriers. There was an average of 6.9 VUS in each patient. The most common pathogenic gene was COL4A3 & 4 (8.62%) while the most common VUS genes were CACNA1H (13.4%), FRAS1 (8.6%), and TNS2 (8.6%).

Conclusion

An underlying pathologic genetic component that may be tied to patients of Latin American descent was seen at greater frequency in our UI population (14%) than that of the general public (10%). These patients had a multitude of different genetic abnormalities which may play a role in the early presentation and currently unknown origin of Mesoamerican Nephropathy. It is clear that further study of these genes are required.

Funding

  • Commercial Support