Transition of Care in X-Linked Hypophosphatemic Rickets: From Pediatric to Adult Practice- A Narrative Review

Tugce Kandemir1, Firdevs Bas1, Serap Turan2

  • 1Istanbul University, Istanbul Faculty of Medicine, Department of Pediatric Endocrinology.

Insights

Transitioning young patients with X-linked hypophosphatemia (XLH) to adult care needs structured support. A practical framework can improve adherence and long-term outcomes for XLH management.

Area of Science:

  • Endocrinology
  • Pediatric Care
  • Transition Medicine

Background:

  • X-linked hypophosphatemia (XLH) necessitates lifelong, multidisciplinary care.
  • The transition from pediatric to adult services is a vulnerable period for XLH patients, risking adherence and follow-up.
  • Current management strategies for XLH transition require optimization.

Purpose of the Study:

  • To synthesize international guidelines and clinical reports for a practical XLH transition framework.
  • To provide evidence-based recommendations for supporting adolescents and young adults with XLH during care transition.
  • To identify gaps in current knowledge regarding optimal XLH management in adults.

Main Methods:

  • Systematic review of international guidelines, consensus statements, and clinical practice reports up to August 2025.
  • Synthesis of existing evidence to create a practical framework for XLH transition.
  • Identification of key recommendations for patient education, team collaboration, and monitoring.

Main Results:

  • Key recommendations include early readiness assessment, patient/family education, and inter-team collaboration.
  • Continuation of therapy with standardized monitoring is crucial for adherence and continuity of care.
  • A flexible transition pathway can improve long-term outcomes for individuals with XLH.

Conclusions:

  • A well-defined transition framework is essential for managing X-linked hypophosphatemia lifelong.
  • Further prospective studies are needed to refine optimal management strategies for adult XLH patients.
  • Improved transition support can enhance adherence and ensure continuity of care for XLH.

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