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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


  • 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

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.


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).


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%).


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.


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