1. Renal genetics in transition
- Author
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Rozemarijn Snoek, Knoers, V.V.A.M., van Eerde, A.M., Lely, A.T., and University Utrecht
- Subjects
Kidney ,Pregnancy ,medicine.diagnostic_test ,Transition (genetics) ,business.industry ,media_common.quotation_subject ,Fertility ,Disease ,Genetics ,kidney ,chronic kidney disease ,kidney transplant ,preimplantation genetic testing ,pregnancy ,fertility ,ultrasound ,gene ,medicine.disease ,Bioinformatics ,Kidney transplant ,medicine.anatomical_structure ,medicine ,business ,Genetic testing ,media_common - 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.
- Published
- 2020
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