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When Genes Reveal the Truth: Alport Syndrome Mimicking Steroid-Resistant Nephrotic Syndrome
John Dotis1, Antonia Kondou2, George Liapis3
1Third Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration Hospital, 546 42 Thessaloniki, Greece.
None:
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.
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