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X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.
Giampiero Igli Baroncelli1, Stefano Mora2
1Pediatric and Adolescent Endocrinology, Department of Obstetrics, Gynecology and Pediatrics, University Hospital, Pisa, Italy.
Frontiers in Endocrinology
|August 23, 2021
Summary
X-linked hypophosphatemia (XLH) is a genetic disorder affecting phosphate regulation. Burosumab, a new treatment targeting FGF23, shows superior results in healing rickets and improving patient quality of life compared to conventional therapies.
Area of Science:
- Genetics and Endocrinology
- Metabolic Bone Diseases
Background:
- X-linked hypophosphatemia (XLH) is the most common inherited rickets, caused by PHEX gene mutations impacting FGF23 regulation.
- This leads to phosphate wasting, reduced vitamin D activation, and characteristic bone deformities, pain, and growth issues.
- XLH is a multisystemic disorder with potential severe complications and limitations of conventional treatments.
Purpose of the Study:
- To evaluate the efficacy of burosumab, a FGF23-targeting antibody, in treating XLH.
- To compare burosumab's effectiveness against conventional therapies for XLH.
- To emphasize the need for multidisciplinary management in XLH patients.
Main Methods:
- Clinical trials involving XLH patients treated with burosumab.
- Assessment of serum phosphate levels, renal phosphate reabsorption, and rickets healing.
- Evaluation of pain reduction, physical function improvement, and adverse events.
Main Results:
- Burosumab significantly improved serum phosphate and renal phosphate reabsorption.
- Rapid healing of rickets and reduction in bone pain were observed with burosumab.
- Burosumab demonstrated superior efficacy compared to conventional treatments, with improved physical function.
Conclusions:
- Burosumab offers a more effective treatment for XLH than conventional therapies.
- Improved phosphate metabolism and rickets healing are key benefits of burosumab.
- A multidisciplinary approach is crucial for comprehensive XLH patient management.
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