The Expert Centre Hereditary and Congenital Nephrologic and Urologic disorders is a national accredited expert center and member of ERKNET. In this international framework we take pride in multidisciplinary care and state of the art diagnostics for patients with hereditary renal disease. Nephrogenetics research is a main theme.
Pushing boundries through scientific research
'Now we are blessed with two healthy daugthers'
Roos, the daughter of the Dollen family, soon fell ill after birth and died after seven months. In this video Gijs van Haaften, researcher in genetics & biology of rare diseases, Marc Lilien, pediatric nephrologist, and Albertien van Eerde, clinical geneticist, talk about their collaboration in the research into gene abnormalities. And what it meant for the parents of Roos. "Through scientific research we have found a defect in Roos's gene, which turned out to be the cause of the health problems. Thanks to this research, we have been able to offer the Dollen family choices in their new children's desire."
Pushing boundaries through scientific research
In the Center, we have 3 multidisciplinary outpatient clinics:
- pediatric nephrology (Dr. M. Lilien / Dr. M.G. Keijzer-Veen) & clinical genetics (A.M. van Eerde)
- adult nephrology (Dr. M. Rookmaaker) & clinical genetics (A.M. van Eerde)
- adult nephrology (drs. F.E. van Reekum ) & obstetrics (Dr. A.T. Lely).
We ensure optimal care for families with renal disease from childhood to adulthood, including preconception and prenatal care. The Nephrogenetics research encompasses research in individual cases and cohorts, for example Kouncil (ciliopathies) and Agora (congenital malformations) and Transplantlines both for pediatric and adult patients, which has already paid of: A substantial subset of patients with adult onset of end stage renal disease turn out to have a monogenic renal disease that were previously thought to affect only children.
The Center encompasses (pediatric) nephrology, (pediatric) urology, clinical and laboratory genetics, obstetrics, nephropathology, radiology, and research. In our meetings we discuss complex cases to see in which cases research could improve patient care. All Utrecht kidney research key players participate in “Kidney Research Utrecht”. We have many national and international collaborations.
The Center is well-connected with patient organisations, foremost the Dutch renal patient association. We involve patients in the set-up of our studies and grant applications. We enthusiastically participate in opportunities for educating patients and laypersons, for instance during World Kidney Day.