X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.

Summary

An international panel produced GRADE-based pediatric XLH guidelines integrating two systematic reviews and expert survey to standardize diagnosis, treatment (including burosumab vs conventional therapy), and monitoring. The guideline also highlights dental complications and proposes mitigation strategies.

Key Findings

• Provides a structured approach to establish pediatric XLH diagnosis, including the role of genetic testing.
• GRADEd recommendations contrast burosumab with conventional therapy and synthesize benefits/harms.
• Monitoring recommendations are graded weak with very low certainty, reflecting current evidence gaps.
• Addresses dental complications in XLH and proposes mitigation strategies.

Clinical Implications

Adopt structured diagnostic pathways including biochemical assessment and targeted genetic testing; consider burosumab as a key therapeutic option with defined monitoring, and implement dental preventive strategies.

Limitations

• Monitoring recommendations rely on expert survey and are graded with very low certainty
• Heterogeneity of underlying evidence and pediatric rarity limit generalizability and strength of some recommendations

Future Directions

Prospective, multicenter studies to strengthen monitoring evidence, long-term safety/effectiveness of burosumab, and standardized dental outcome reporting.