Clin Exp Pediatr.
2024 Jan;67(1):17-25. 10.3345/cep.2022.01459.
X-linked hypophosphatemic rickets: from diagnosis to management
- Affiliations
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- 1Department of Pediatrics, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Korea
- 2Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
- 3Departments of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea
- 4Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea
- 5Wide River Institute of Immunology, Seoul National University, Hongcheon, Korea
- KMID: 2549889
- DOI: http://doi.org/10.3345/cep.2022.01459
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.
