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X-Linked Hypophosphatemia: Burosumab Therapy

Targeted anti-FGF23 monoclonal antibody (burosumab) treatment for inherited renal phosphate wasting due to PHEX gene mutations, indicated in children and adults with X-linked hypophosphatemia (XLH).

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

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What is X-Linked Hypophosphatemia: Burosumab Therapy?

X-linked hypophosphatemia (XLH) is the most common heritable form of rickets caused by PHEX gene loss-of-function mutations leading to elevated FGF23 and renal phosphate wasting.

Burosumab (KRN23) binds FGF23 and restores phosphate reabsorption and 1,25-dihydroxyvitamin D production, replacing the conventional regimen of oral phosphate and calcitriol given multiple times per day.

Indications include children with XLH from age 6 months and adults with persistent symptoms, with subcutaneous dosing every two weeks in children and every four weeks in adults.

Symptoms

Lower limb deformities — bowing, knock knees, and short stature in children
Bone and joint pain, muscle weakness, and reduced physical function in adults
Dental abscesses and enamel defects from poor mineralization
Enthesopathy with calcification of tendons and ligaments in adults
Persistent low serum phosphate, elevated alkaline phosphatase, and elevated FGF23

Risk Factors

Genetically confirmed PHEX mutation or family history of XLH
Inadequate response or intolerance to oral phosphate and calcitriol therapy
Active rickets or osteomalacia documented by radiographs and biochemistry
Functional limitation impacting daily activities or work in adults
Persistent skeletal symptoms despite conventional therapy in adolescents and adults

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Children with XLH and persistent rickets despite conventional therapy
  • Adults with XLH who experience pain, fractures, or pseudofractures
  • Adverse effects of conventional therapy including nephrocalcinosis or hyperparathyroidism
  • New genetic confirmation of XLH and need to plan disease-specific therapy

Treatment Methods

01
Subcutaneous burosumab dosed by weight, every 2 weeks in children and every 4 weeks in adults
02
Discontinuation of oral phosphate and active vitamin D analog at least one week before initiation
03
Monitoring of fasting serum phosphate, calcium, alkaline phosphatase, and PTH at baseline and during treatment
04
Imaging follow-up of rickets healing in children and pseudofracture remodeling in adults
05
Long-term assessment of pain, function, and quality of life with multidisciplinary endocrine, dental, and orthopedic care

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.