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X-Linked Hypophosphataemic Rickets and Growth.
1Unidad de Nefrología Pediátrica, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Spain. santosrfernando@gmail.com.
Advances in Therapy
|April 3, 2020
Summary
X-linked hypophosphataemia (XLH) causes growth retardation by affecting the bone growth plate. New therapies targeting FGF23 show promise for improving longitudinal bone growth in XLH patients.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- X-linked hypophosphataemia (XLH) is a common genetic disorder affecting phosphate metabolism.
- It leads to rickets, characterized by fractures, bone deformities, and growth delay.
Purpose of the Study:
- To explore the relationship between XLH and growth retardation.
- To discuss potential therapeutic strategies for addressing growth impairment in XLH.
Main Methods:
- Review of existing literature on XLH pathophysiology and growth plate alterations.
- Analysis of current and emerging treatment options for XLH.
Main Results:
- XLH involves growth plate abnormalities, including chondrocyte dysfunction and MAPK pathway overactivation.
- Conventional treatments are often inadequate for restoring longitudinal bone growth.
Conclusions:
- Therapies targeting fibroblast growth factor 23 (FGF23) or its receptor, such as burosumab, demonstrate potential for improving growth in XLH.
- Further research is needed to fully elucidate growth mechanisms and optimize treatment strategies.
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