X-linked hypophosphatemic rickets: from diagnosis to managementopen access
- Authors
- Park, Eujin; Kang, Hee Gyung
- Issue Date
- Jan-2024
- Publisher
- 대한소아청소년과학회
- Keywords
- Rickets; Hypophosphatemia; X-linked hypophosphatemia
- Citation
- Clinical and Experimental Pediatrics, v.67, no.1, pp 17 - 25
- Pages
- 9
- Indexed
- SCOPUS
ESCI
KCI
- Journal Title
- Clinical and Experimental Pediatrics
- Volume
- 67
- Number
- 1
- Start Page
- 17
- End Page
- 25
- URI
- https://scholarworks.korea.ac.kr/kumedicine/handle/2021.sw.kumedicine/65770
- DOI
- 10.3345/cep.2022.01459
- ISSN
- 2713-4148
- Abstract
- X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts and activated vitamin D cannot completely control chronic hypophosphatemia, leaving patients with incomplete healing and residual skeletal deformity as well as at risk of endocrine abnormalities and adverse drug reactions. However, understanding the pathophysiology has led to the development of a targeted therapy, burosumab, a fibroblast growth factor-23 inhibitor that was recently approved in Korea for the treatment of XLH. This review provides insight into the diagnosis, evaluation, treatment, and recommended follow-up for a typical case of XLH and reviews its pathophysiology.
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Collections - 5. Others > ETC > 1. Journal Articles
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