Clinical Diagnosis, Genetic Background and Treatment of Vitamin-D Resistant Hypophosphatemic Ricket

X-linked hypophosphatemia (XLH) is the most common heritable form of rickets. It involves loss-of-function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, which give rise to the increase of fibroblast growth factor 23 (FGF23). Excess FGF23 reduces renal phosphate reabsorption, hence hypophosphatemia, and consequentially diminishes the synthesis of active vitamin D. Treatment includes conventional therapy of phosphate and active vitamin D, together with correction of bone deformities and monitoring treatment-related side effects. Burosumab, a recombinant monoclonal antibody directed at FGF23, is a first-line treatment option for XLH.

Department dc:contributor.department

DE--Általános Orvostudományi Kar

Author dc:creator

• Tran, Luong Minh Khoi

Advisor dc:contributor.advisor

• Szabó, Tamás

• XLH
• FGF23
• Burosumab

Language dc:language.iso

en

Handle dc:identifier.uri

https://hdl.handle.net/2437/357978

OAI identifier oai:identifier

oai:dea.lib.unideb.hu:2437/357978