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

## TL;DR

A child with kidney disease was correctly diagnosed with a genetic condition through genetic testing, avoiding unnecessary treatments.

## Contribution

Demonstrates the value of early genetic testing in pediatric nephrotic syndrome to avoid misdiagnosis and inappropriate therapy.

## Key findings

- A novel COL4A3 pathogenic variant was identified in a child with steroid-resistant nephrotic syndrome.
- Electron microscopy confirmed glomerular basement membrane abnormalities consistent with collagen-related nephropathy.
- Early genetic testing improved diagnosis and treatment decisions in a pediatric case.

## 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.