Genetics-first approach improves diagnostics of ESKD patients50 years old
| Autor: | Maarten B. Rookmaaker, Albertien M. van Eerde, Roel Goldschmeding, Tri Q. Nguyen, Bert van der Zwaag, Richard H. van Jaarsveld, Robert F Ernst, Edith D.J. Peters, Eric Spierings, Arjan D. van Zuilen, Rozemarijn Snoek, Marc R. Lilien, Nine V A M Knoers, Martin G Elferink |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
030232 urology & nephrology Disease Genetic analysis Monogenic disease Kidney transplant Cohort Studies 03 medical and health sciences 0302 clinical medicine Biopsy Medicine Humans Genetic Testing Renal Insufficiency Chronic Exome sequencing Genetic testing Retrospective Studies Genetics Transplantation medicine.diagnostic_test business.industry Middle Aged 030104 developmental biology Nephrology Cohort Kidney Failure Chronic business |
| Zdroj: | Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 37(2) |
| ISSN: | 1460-2385 |
| Popis: | Background Often only chronic kidney disease (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 kidney transplant recipients aged Methods From a cohort of 273 transplant patients, we selected 110 that were in care in the University Medical Center 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. Conclusions The burden of monogenic disease in transplant patients with end-stage kidney disease (ESKD) of any cause prior to the age of 50 years is between 21% and 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 expect to develop ESKD prior to the age of 50 years, genetic testing should be considered as first mode of diagnostics. |
| Databáze: | OpenAIRE |
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