Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes
Among patients with <i>WT1</i> variants, a genotype-phenotype correlation was observed for Wilms tumor risk and age of CKD onset. Although childhood-onset CKD was more common in patients with missense variants in the DNA-binding/Zinc-finger domain, other patients may develop CKD and kidney failure later in life. Therefore, life-long surveillance of kidney function is recommended. Being alert about <i>WT1</i> variants is especially important for girls with Wilms tumor who often miss additional phenotypes.
Authors
- Marc R. Liliën (ORCID: https://orcid.org/0000-0002-8956-0324)
- Marjolijn C.J. Jongmans (ORCID: https://orcid.org/0000-0001-6572-4374)
- Marry M. van den Heuvel‐Eibrink (ORCID: https://orcid.org/0000-0002-7760-879X)
- Sophie E. van Peer (ORCID: https://orcid.org/0000-0001-5484-9112)
- Janna A. Hol (ORCID: https://orcid.org/0000-0002-3156-5229)
- Roland P. Kuiper (ORCID: https://orcid.org/0000-0003-4928-3809)
- Maria Lombardi (ORCID: https://orcid.org/0000-0002-8198-5264)
- Bert van der Zwaag
- Sanne Egging
Institutions
- Erasmus MC (NL)
- University Medical Center Utrecht (NL)
- Center for Human Genetics (US)
- Princess Máxima Center (NL)
- Wilhelmina Children's Hospital (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2024-09-16
- DOI
- https://doi.org/10.1016/j.ekir.2024.09.007
- Citations
- 2
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.47