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Nephrology (Genitourinary)

X-linked hypophosphatemic rickets: from diagnosis to management

Eujin Park, Hee Gyung Kang

Clin Exp Pediatr. 2024;67(1):17-25. Published online June 14, 2023

Web of Science 2 Crossref 2

· X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects 1/20,000 people.
· XLH is caused by a loss-of-function mutation of the PHEX gene.
· Its main pathogenesis is elevated fibroblast growth factor-23 (FGF23) level.
· Burosumab, an FGF23 inhibitor, was developed in the early 2000s.
· Burosumab was approved in Korea in 2020 for XLH patients aged 1+ years with radiographic evidence of bone disease.

DOI: https://doi.org/10.3345/cep.2022.01459

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