Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report
This case report provides insights into the phenotypic complexity of hereditary nephropathies and the diagnostic challenge posed by overlapping glomerular and tubular presentations. WES enabled us to expand our knowledge of the genetics of kidney diseases in adults and to reclassify the patient's nephropathy.
Authors
- Marny Fedrigo (ORCID: https://orcid.org/0000-0002-3081-2937)
- Monica Ceol (ORCID: https://orcid.org/0000-0001-7489-2433)
- Alessandra Giannella (ORCID: https://orcid.org/0000-0002-4464-9800)
- Giulio Ceolotto (ORCID: https://orcid.org/0000-0002-4687-8033)
- Federico Nalesso (ORCID: https://orcid.org/0000-0002-1167-2764)
- Elena Sgrò (ORCID: https://orcid.org/0009-0004-6513-6504)
- Giovanna Priante (ORCID: https://orcid.org/0000-0002-1870-4466)
- Franca Anglani (ORCID: https://orcid.org/0000-0003-1534-4458)
- Dorella Del Prete (ORCID: https://orcid.org/0000-0003-2141-3472)
Institutions
- University of Padua (IT)
Publication Details
- Journal
- Case Reports in Nephrology and Dialysis
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1159/000549650
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Università degli Studi di Padova