X-linked hypophosphatemic rickets: case report with perspectives and challenges.
Beatriz Almeida Ribeiro, Henrique Massashi Soga, Fernanda Teresa de Lima et al.
✦ AI-curated · Sources linked
Case in brief
This case report discusses three pediatric patients diagnosed with X-linked hypophosphatemic rickets (XLH), a genetic disorder linked to PHEX gene mutations. The patients were treated with burosumab, a monoclonal antibody that targets FGF23, leading to significant improvements in clinical symptoms and biochemical parameters. The treatment was associated with fewer adverse effects compared to conventional therapies, enhancing patient adherence.
Diagnostic / clinical pearl
Burosumab offers a targeted approach to managing XLH, addressing the underlying pathophysiology and improving treatment outcomes compared to traditional therapies.
Why it matters
The findings suggest that burosumab may represent a more effective management strategy for XLH in pediatric patients, potentially reducing the risk of adverse effects associated with conventional treatments.