Rapidly progressive steroid-resistant focal segmental glomerulosclerosis associated with an INF2 exon 6 variant.
Syuhei Watanabe, Kenichi Tanaka, Tasuku Ishikawa et al.
✦ AI-curated · Sources linked
Case in brief
A 12-year-old boy presented with proteinuria and was diagnosed with focal segmental glomerulosclerosis (FSGS) at age 14 after renal biopsy. Despite steroid and immunosuppressive treatments, including plasma exchange, he did not respond. Genetic testing revealed a heterozygous missense variant in exon 6 of the INF2 gene. The patient progressed to end-stage kidney disease by age 17.
What made this case unusual
The case highlights a rare INF2 exon 6 variant associated with a notably aggressive progression of FSGS, which is uncommon in reported cases.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for INF2 variants in cases of steroid-resistant FSGS, especially when the clinical course is rapidly progressive.
Why it matters
Understanding the genetic underpinnings of FSGS can aid in prognosis and management, particularly in cases with atypical presentations.