Work

When Genes Reveal the Truth: Alport Syndrome Mimicking Steroid-Resistant Nephrotic Syndrome

Year: 2025

Type: article

Abstract: 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.

Source: Pediatric Reports

DOI: 10.3390/pediatric18010003

Authors: John Dotis, Antonia Kondou, George Liapis, Athina Ververi, Konstantinos Kollios, Nikoleta Printza

Institutions: Aristotle University of Thessaloniki, Ippokrateio General Hospital of Thessaloniki, Laiko General Hospital of Athens, Papageorgiou General Hospital

Language: English

Topic: Renal Diseases and Glomerulopathies

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,930