<i>MUC1</i>-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families
ADTKD-<i>MUC1</i> was identified in 7/123 patients (6%) in a selected cohort of kidney failure of undetermined aetiology ≤50 years, and VNtyper effectively identified all pathogenic <i>MUC1</i> variants.
Authors
- Maria Rasmussen (ORCID: https://orcid.org/0000-0003-1635-819X)
- Dorte Launholt Lildballe (ORCID: https://orcid.org/0000-0003-0223-1673)
- Jeff Granhøj (ORCID: https://orcid.org/0000-0002-7366-8074)
- Malene Djursby (ORCID: https://orcid.org/0000-0001-7068-1081)
- Henrik Birn (ORCID: https://orcid.org/0000-0003-3715-7266)
- Birgitte Tougaard (ORCID: https://orcid.org/0000-0001-7274-6010)
- Annabeth Høgh Petersen (ORCID: https://orcid.org/0000-0002-4503-6942)
- Tilde Kristensen (ORCID: https://orcid.org/0000-0002-4009-553X)
- Martin Sokol
- Katja Venborg Pedersen
- Mads Malik Aagaard
Institutions
- University of Southern Denmark (DK)
- Aarhus University (DK)
- Aarhus University Hospital (DK)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- Regionshospitalet Viborg (DK)
- Lillebaelt Hospital (DK)
Publication Details
- Journal
- Clinical Kidney Journal
- Published
- 2024-11-15
- DOI
- https://doi.org/10.1093/ckj/sfae355
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- AstraZeneca
- Alexion Pharmaceuticals
- Aase og Ejnar Danielsens Fond
- Karen Elise Jensens Fond
- Novo Nordisk
- Nyreforeningen
- Astellas Pharma
- Augustinus Fonden
- Vifor Pharma
- Familien Hede Nielsens Fond
- Sygehus Lillebælt