Rapidly progressive pediatric fibronectin glomerulopathy driven by a novel FN1 mutation (p.Thr1917del): implications for early diagnosis and recognition of systemic involvement.
Xiaobin Chen, Jun Huang, Yi Chen et al.
✦ AI-curated · Sources linked
Case in brief
A 9-year-old girl presented with nephrotic-range proteinuria, microscopic hematuria, hypertension, and progressive kidney decline, leading to kidney failure after ten years. Initial kidney biopsy suggested atypical membranoproliferative glomerulonephritis. Genetic testing revealed a novel FN1 mutation (p.Thr1917del), and fibronectin deposition was noted in gastric mucosa, indicating systemic involvement.
What made this case unusual
The case highlights a novel FN1 mutation associated with fibronectin glomerulopathy, along with histological evidence of systemic involvement, which is atypical for this condition.
Diagnostic / clinical pearl
Clinicians should consider FN1 genetic testing and fibronectin staining in cases of atypical membranoproliferative glomerulonephritis to identify potential fibronectin glomerulopathy.
Why it matters
This case emphasizes the importance of recognizing systemic involvement in fibronectin glomerulopathy, which may influence management and prognosis.