When Genes Reveal the Truth: Alport Syndrome Mimicking Steroid-Resistant Nephrotic Syndrome
Τargeted genetic sequencing in a 6-year-old with steroid-resistant nephrotic syndrome and biopsy findings of focal segmental glomerulosclerosis (FSGS) revealed a novel COL4A3 pathogenic variant (p.Arg341His). Combined with electron microscopy findings of glomerular basement membrane abnormality, this led to a diagnosis of type IV collagen-related nephropathy. This case underscores the benefit of early genetic testing in presumed FSGS for prognosis and avoiding unnecessary immunosuppression in pediatric nephrotic syndrome.
Authors
- Athina Ververi (ORCID: https://orcid.org/0000-0002-8393-4444)
- George Liapis
- Nikoleta Printza (ORCID: https://orcid.org/0000-0003-1618-9285)
- John Dotis (ORCID: https://orcid.org/0000-0001-5217-1766)
- Antonia Kondou (ORCID: https://orcid.org/0000-0002-1709-4272)
- Konstantinos Kollios
Institutions
- Aristotle University of Thessaloniki (GR)
- Papageorgiou General Hospital (GR)
- Laiko General Hospital of Athens (GR)
- Ippokrateio General Hospital of Thessaloniki (GR)
- Hippocration General Hospital (GR)
Publication Details
- Journal
- Pediatric Reports
- Published
- 2025-12-19
- DOI
- https://doi.org/10.3390/pediatric18010003
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00