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

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

  • By

  • Dalal S Ali

  • Thomas O Carpenter

  • Erik A Imel

  • Leanne M Ward

  • Natasha M Appelman-Dijkstra

  • Catherine Chaussain

  • Suzanne M Jan de Beur

  • Pablo Florenzano

  • Hajar Abu Alrob

  • Rana Aldabagh

  • R Todd Alexander

  • Farah Alsarraf

  • Signe Sparre Beck-Nielsen

  • Martin Biosse-Duplan

  • Rachel K Crowley

  • Karel Dandurand

  • Guido Filler

  • Lisa Friedlander

  • Seiji Fukumoto

  • Claudia Gagnon

  • Paul Goodyer

  • Corinna Grasemann

  • Chelsey Grimbly

  • Salma Hussein

  • Muhammad K Javaid

  • Sarah Khan

  • Aneal Khan

  • Anna Lehman

  • Willem F Lems

  • E Michael Lewiecki

  • Ciara McDonnell

  • Reza D Mirza

  • Emmett Morgante

  • Archibald Morrison

  • Anthony A Portale

  • Christina Rao

  • Yumie Rhee

  • Eric T Rush

  • Heide Siggelkow

  • Sotirios Tetradis

  • Laura Tosi

  • Gordon Guyatt

  • Maria Luisa Brandi

  • Aliya A Khan

  • February 17, 2025

  • 0 min

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Objective:

To provide updated guidelines on the diagnosis, evaluation, management, and monitoring of X-linked hypophosphatemia (XLH) in children, reflecting recent advances in understanding the condition.

Key Findings:
  • XLH is caused by pathogenic variants in the PHEX gene, leading to chronic hypophosphatemia and skeletal deformities, which require careful management.
  • Diagnosis can be made with chronic hypophosphatemia and an X-linked inheritance pattern, emphasizing the need for genetic testing.
  • Monitoring recommendations were graded as weak with very low certainty due to limited evidence, indicating a need for further research.
Interpretation:

The guidelines provide a comprehensive framework for healthcare professionals managing XLH in children, emphasizing the importance of multidisciplinary care, including endocrinology, nephrology, and orthopedics.

Limitations:
  • Limited published evidence on pediatric XLH diagnosis and management, which may affect the robustness of the guidelines.
  • Monitoring recommendations based on expert consensus rather than robust clinical trials, highlighting the need for future studies.
Conclusion:

These guidelines represent a significant advancement in the understanding and management of XLH in pediatric patients, aiming to improve clinical outcomes and calling for ongoing research to fill existing knowledge gaps.

Original Source(s)

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

  • by Dalal S Ali, Thomas O Carpenter, Erik A Imel, Leanne M Ward, Natasha M Appelman-Dijkstra, Catherine Chaussain, Suzanne M Jan de Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Rachel K Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F Lems, E Michael Lewiecki, Ciara McDonnell, Reza D Mirza, Emmett Morgante, Archibald Morrison, Anthony A Portale, Christina Rao, Yumie Rhee, Eric T Rush, Heide Siggelkow, Sotirios Tetradis, Laura Tosi, Gordon Guyatt, Maria Luisa Brandi, Aliya A Khan

  • February 17, 2025

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