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

Rozemarijn Snoek

doi:10.33540/294

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

Rozemarijn Snoek

Research output: Thesis › Doctoral 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 language	English
Awarding Institution	University Medical Center (UMC) Utrecht
Supervisors/Advisors	Knoers, Nine, Primary supervisor van Eerde, AM, Co-supervisor Lely, Titia, Co-supervisor
Award date	29 Oct 2020
Publisher	Utrecht University
Print ISBNs	978-90-393-7323-1
DOIs	https://doi.org/10.33540/294
Publication status	Published - 29 Oct 2020

Keywords

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

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

Abstract

Keywords

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