Renal genetics in transition: On the clinical relevancy of genetic testing in renal disease

Rozemarijn Snoek

Research output: ThesisDoctoral thesis 1 (Research UU / Graduation UU)

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Abstract

The work in this thesis makes the case for a genetics-first approach in CKD. Though there is a high prevalence of monogenic kidney disease (MGKD), it is underdiagnosed in daily practice. This while an adequate MGKD diagnosis provides patients with life-long improvements in care and well-being. Next to the direct impact on patients, the outcomes of genetic testing increase knowledge on disease processes. More knowledge on MGKD will allow for the identification of more MGKD patients and the improvement of reproductive care.
Original languageEnglish
Awarding Institution
  • University Medical Center (UMC) Utrecht
Supervisors/Advisors
  • Knoers, Nine, Primary supervisor
  • van Eerde, AM, Co-supervisor
  • Lely, Titia, Co-supervisor
Award date29 Oct 2020
Publisher
Print ISBNs978-90-393-7323-1
DOIs
Publication statusPublished - 29 Oct 2020

Keywords

  • Genetics
  • kidney
  • chronic kidney disease
  • kidney transplant
  • preimplantation genetic testing
  • pregnancy
  • fertility
  • ultrasound
  • gene

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