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Updated: Nov 11, 2025
10:03
Evaluation of Right Ventricular Function in Experimental Models of Pulmonary Arterial Hypertension
Published on: June 27, 2025
481
Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia
Ana Castellano-Martinez1, Silvia Acuñas-Soto1, Virginia Roldan-Cano1
1Puerta del Mar University Hospital, Department of Pediatric Nephrology, Cadiz, Spain
Journal of Clinical Research in Pediatric Endocrinology
|March 30, 2021
Summary
Burosumab effectively treats X-linked hypophosphatemia (XLH), improving biochemistry, quality of life, and even cardiac function in severe cases. Early intervention may prevent cardiovascular complications associated with high FGF23 levels.
Area of Science:
- Genetics and rare diseases
- Endocrinology
- Pediatric nephrology
Background:
- X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by PHEX gene mutations.
- Elevated FGF23 in XLH leads to phosphorus wasting and bone abnormalities.
- Conventional XLH treatment involves phosphorus and calcitriol supplements.
Purpose of the Study:
- To report clinical experience with burosumab in two XLH cases.
- To evaluate burosumab's efficacy in patients with diverse phenotypes, including cardiac involvement.
- To discuss the role of FGF23 in cardiovascular complications and potential benefits of early burosumab treatment.
Main Methods:
- Case report of two XLH patients treated with burosumab.
- Clinical and radiological assessment before and after treatment.
- Biochemical analysis and echocardiography to monitor treatment response and cardiac function.
Main Results:
- Burosumab was well-tolerated in both patients.
- Radiological phenotype stabilized, and biochemical parameters improved significantly.
- One patient with left ventricular hypertrophy and dysfunction showed normalization of cardiac function.
- Quality of life improved in both cases.
Conclusions:
- Burosumab is a promising therapeutic option for XLH, offering significant clinical benefits.
- Early burosumab treatment may potentially prevent cardiovascular manifestations linked to high FGF23 levels in XLH.
- Further research is needed to elucidate FGF23's role in cardiovascular damage and the impact of early burosumab intervention.
Keywords:
FGF23X-linked hypophosphataemiaarterial hypertensioncardiovascular riskleft ventricular hypertrophyburosumabMore Related Videos
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