Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab

X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life.

Citation:
Sandy JL, Simm PJ, Biggin A, Rodda CP, Wall CL, Siafarikas A, Munns CF. Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab. J Paediatr Child Health. 2022;58(5):762-8.

Keywords:
Bone health; monoclonal antibody; rickets; burosumab; fibroblast growth factor; familial hypophosphatemic rickets; genetics; quality of life; antibodies

Abstract:
X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life.