Publication at Faculty of Pharmacy in Hradec Králové, Faculty of Medicine in Hradec Králové |
2022
Abstract
X-linked hypophosphatemia (XLH) is a rare disease manifested in childhood mainly as rickets, osteomalacia, odontomalacia and disproportionately short stature. A typical first manifestation is a waddling walk and pain in the limbs.
We present a case report of two siblings with familial occurrence of XLH, in whom conventional therapy with phosphates and calcitriol was not sufficiently effective. After initiation of treatment with burosumab, a monoclonal antibody against FGF-23, there was a significant reduction in clinical symptoms and improvement of laboratory findings.
Compared to conventional therapy, the treatment is better tolerated and has no adverse effects.