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Abstract
X-linked hypophosphatemic rickets (XLH) is a rare disorder, with a global incidence of approximately 3.9–5 cases per 100,000 live births and a prevalence of approximately 1.7 cases per 100,000 children (4). Considerable variability in genotype and phenotype expression is a hallmark of XLH. This variability significantly limits the definition of a single, standardized “typical case,” as variable expressivity results in a broad spectrum of clinical manifestations that differ in severity and symptomatology. Furthermore, this complexity is compounded by the identification of more than 300 pathogenic variants in the PHEX gene.
References
Cárdenas-Aguilera JG, Medina-Orjuela A, Meza-Martínez AI, Prieto JC, Zarante-Bahamón AM, Cáceres-Mosquera JA,et al. Expert consensus on evidence-based recommenda-tions for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH).Rev. Colomb. Nefrol. 2024;11(1),e754. https://doi.org/10.22265/acnef.11.1.754
Wallace SS, Barak G, Truong G, Parker MW. Hierarchy of Evidence Within the Medical Literature. Hosp Pediatr. 2022 Aug 1;12(8):745-750. doi: 10.1542/hpeds.2022-006690. PMID: 35909178.
Manterola, Carlos, Asenjo-Lobos, Claudla, & Otzen, Tamara. (2014). Jerarquización de la evidencia: Niveles de evidencia y grados de recomendación de uso actual. Revista chilena de infectología, 31(6), 705-718. https://dx.doi.org/10.4067/S0716-10182014000600011
Giannini S, Bianchi ML, Rendina D, Massoletti P, Lazzerini D, Brandi ML. Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review. Osteoporos Int. 2021;32(10):1937–49.
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