Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 38229908.
- Also identified by DOI 10.1016/j.bonr.2023.101725 and PMC identifier 10790024.
- Licence recorded as CC BY-NC-ND.
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Abstract
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare bone disorder featuring fibroblast growth factor-23 (FGF23)-mediated hypophosphatemic rickets. We report a 2-year, 10-month-old girl with CSHS treated with burosumab, a novel human monoclonal antibody targeting FGF23. This approach was associated with rickets healing, improvement in growth and lower limb deformity, and clinically significant benefit to her functional mobility and motor development. This case report provides evidence for the effective use of FGF23-neutralizing antibody therapy beyond the classic FGF23-mediated disorders of X-linked hypophosphatemia and tumor-induced osteomalacia.