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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.
Abstract:
X-linked hypophosphatemic rickets (XLH) requires lifelong, coordinated, and multidisciplinary care, and the transition from pediatric to adult services represents a particularly vulnerable period often accompanied by reduced treatment adherence and a greater risk of loss to follow-up. This review aims to provide a clear, practical framework for supporting the transition of adolescents and young adults with XLH by synthesizing international guidelines, consensus statements, and clinical practice reports published up to August 2025. Current recommendations highlight the importance of early assessment of transition readiness, structured and developmentally appropriate education for patients and their families, close collaboration between pediatric and adult endocrinology teams, and the continuation of therapy with standardized monitoring protocols. A well-designed yet flexible transition pathway may support adherence, ensure continuity of care, and contribute to improved long-term outcomes. By summarizing existing evidence and identifying areas where data remain limited, this review underscores the need for prospective studies to better define optimal management strategies for adults living with XLH.
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