Profile photo van Eerde

van Eerde

Associate Professor - medical

Strategic program(s):

Biography

Albertien van Eerde has dedicated her career to optimizing and personalizing care for patients with suspected hereditary kidney disease by integrating clinical practice, research, education, and the organization of care. This comprehensive approach has led to the establishment of the field of Translational Nephrogenetics.

 

Albertien was one of the the first to demonstrate that a significant proportion of young adult end-stage renal disease (ESRD) patients have a monogenic cause, with half of these cases either misdiagnosed or undiagnosed. As a result, gene panel testing has become the standard of care in cases of unexplained kidney disease.

 

Additionally, Albertien discovered that nephronophthisis, a well-known cause of monogenic childhood-onset kidney failure, also accounts for approximately 0.5% of adult-onset ESRD cases. She has led clinical research initiatives that have significantly advanced the understanding of hereditary kidney diseases, including identifying novel gene-disease associations, such as for the NEK8 and ALG6 genes.

 

She played a pivotal role in securing the initial accreditation and subsequent reaccreditations of the Expert Center for Hereditary Kidney Diseases (ECZA) through the Dutch Federation of University Medical Centers (NFU) and the European Union. Moreover, Albertien has contributed to and led key national and international guidelines for the management of these patient groups.

 

Her efforts have heightened awareness of the genetic basis of kidney disease, influencing clinical practices not only at UMC Utrecht but also at hospitals across the Netherlands and internationally. By establishing the GeNepher biobank for hereditary kidney diseases, Albertien has created a critical resource that fosters treatment research, benefiting her work as well as the broader nephrology community. In her clinical practice, she focuses exclusively on kidney patients, further cementing her position as a national and international leader in nephrogenetics.

Research groups

Translational nephrogenetics

Research aim

The group aims to improve outcomes for patients with severe renal disease of yet unknown and/or (potentially) hereditary etiology, by providing them with optimal genetic diagnostics and counseling.

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Recent publications

Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling Margriet E Gosselink, Rozemarijn Snoek, Agne Cerkauskaite-Kerpauskiene, Sophie P J van Bakel, Renee Vollenberg, Henk Groen, Rimante Cerkauskiene, Marius Miglinas, Rossella Attini, Kálmán Tory, Kathleen Claes, Kristel van Calsteren, Aude Servais, Margriet F C de Jong, Valentine Gillion, Liffert Vogt, Antonio Mastrangelo, Monica Furlano, Roser Torra, Kate Bramham, Kate Wiles, Elizabeth R Ralston, Matthew Hall, Lisa Liu, Michelle A Hladunewich, Titia Lely, Albertien M van Eerde,
Kidney International, 2024, vol. 105, p.1088-1099
Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria Sofie L.M. Blokland, Maarten Limper, Albertien M. Van Eerde, Hilde H.F. Remmelts
BMJ Case Reports, 2024, vol. 17
The Role of Genetic Testing in Adult CKD Nine V.A.M. Knoers, Albertien M. Van Eerde
Journal of the American Society of Nephrology, 2024, vol. 35, p.1107-1118
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants Willem Bosman, Gijs A.C. Franken, Javier de las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M. van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H.F. de Baaij, Joost G.J. Hoenderop
Scientific Reports, 2024, vol. 14
Medullary Sponge Kidney and its Relationship with Primary Distal Renal Tubular Acidosis Gerrit van den Berg, Laura Claus, Bert van der Zwaag, Phillis Lakeman, Lotte Kaasenbrood, John A Sayer, Marc Lilien, Albertien M van Eerde,
Nephron, 2024, vol. 148, p.569–577
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C. Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M. van Eerde, Joost P. Schanstra, Stéphane Decramer, Gema Ariceta,
Kidney International Reports, 2024, vol. 9, p.2514-2526

Fellowships & Awards

2018: Kolff senior postdoc grant 2018 : GENEPHER

2018: Stofwisselkracht - cystinosis project

2017: ERA-EDTA Stanley Shaldon award for young investigators

2015: ISN Young Nephrologist award

2015: ERA-EDTA Absolute best abstract award

2014: PhD Student Grant

2013: NutsOhra Fund

2012: Kolff Postdoc Startup Grant