Diagnosis and treatment of inherited hypophosphatemia related diseases in children
ZHANG Ya-nan
XING Yu-tong
ZHANG Hui-feng
Abstract：In normal condition,because the dietary phosph-orus is rich,unlike calcium deficiency,human has no phosphorus deficiency caused by insufficient intake.Phosphorus deficiency in children is mostly caused by genetic diseases.Inherited hypophosphatemia related diseases in children mainly involve FGF23-mediated hypophosphatemia and non-FGF23-mediated hypophosphatemia.Clinical evalu-ation includes a thorough history investigation,physical examination,laboratory tests,genetic analysis,and imaging,in order to determine the etiology.The wide application of genetic technology has laid the foundation for accurate diagnosis of hypophosphatemia and hypophosphatemic rickets.Fibroblast growth factor 23 monoclonal antibody(Burosumab)has created conditions for targeted therapy of inherited hypophosphatemia related diseases in children.
Keywords：phosphorusfibroblast growth factor 23hypophosphatemiarickets
Publication Date：2024-10-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 756-759 )