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Abstract: PO1651

21%-51% of a Single-Center, 15-Year Cohort of All Patients with ESKD Prior to the Age of 50 Have Monogenic Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Snoek, Rozemarijn, Department of Genetics, UMC Utrecht, Utrecht, Netherlands
  • van Jaarsveld, Richard H., Department of Genetics, UMC Utrecht, Utrecht, Netherlands
  • Nguyen, Tri Q., Department of Pathology, UMC Utrecht, Utrecht, Netherlands
  • Peters, Edith, Department of Genetics, UMC Utrecht, Utrecht, Netherlands
  • Elferink, Martin, Department of Genetics, UMC Utrecht, Utrecht, Netherlands
  • Ernst, Robert Frans, Department of Genetics, UMC Utrecht, Utrecht, Netherlands
  • Rookmaaker, Maarten B., Department of Nephrology, UMC Utrecht, Utrecht, Netherlands
  • Lilien, Marc, Pediatric Nephrology, Wilhelminas Children Hospital, UMC Utrecht, Utrecht, Netherlands
  • Spierings, Eric, Department of Immunology, UMC Utrecht, Utrecht, Netherlands
  • Goldschmeding, Roel, Department of Pathology, UMC Utrecht, Utrecht, Netherlands
  • Knoers, Nine V., Department of Genetics, UMC Groningen, Groningen, Netherlands
  • Van der zwaag, Bert, Department of Genetics, UMC Utrecht, Utrecht, Netherlands
  • Van Zuilen, Arjan D., Department of Nephrology, UMC Utrecht, Utrecht, Netherlands
  • van Eerde, Albertien M., Department of Genetics, UMC Utrecht, Utrecht, Netherlands

Group or Team Name

  • Nephrogenetics @ UMCU
Background

Often only CKD patients with high likelihood of genetic disease are offered genetic testing. Early genetic testing could obviate the need for kidney biopsies, allowing for adequate prognostication and treatment. To test the viability of a ‘genetics first’ approach for CKD, we performed genetic testing in a group of renal transplant recipients <50 years, irrespective of cause of transplant.

Methods

From a cohort of 273 transplant patients, we selected 110 that were in care in the UMC Utrecht, had DNA available and were without clear-cut non-genetic disease. Forty patients had been diagnosed with a genetic disease prior to enrollment, in 70 patients we performed a whole exome sequencing based 379 gene panel analysis.

Results

Genetic analysis yielded a diagnosis in 51%. Extrapolated to the 273 patient cohort, who did not all fit the inclusion criteria, the diagnostic yield was still 21%. Retrospectively, in 43% of biopsied patients the kidney biopsy would not have had added diagnostic value if genetic testing had been performed as a first tier diagnostic.

Conclusion

The burden of monogenic disease in transplant patients with ESKD of any cause prior to the age of 50 is 21-51%. Early genetic testing can provide a non-invasive diagnostic, impacting prognostication and treatment and obviating the need for an invasive biopsy. We conclude that in patients who one expects to develop ESKD prior to the age of 50, genetic testing should be considered as first mode of diagnostics.