van Eerde

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.