ArticleCureus2026
X-linked Hypophosphatemic Rickets Revealed by Exome Sequencing: A Pediatric Case Report of a PHEX Pathogenic Variant.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed.
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3 authors.
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Abstract
X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary vitamin-resistant rickets, caused by inactivating mutations of the PHEX (phosphate-regulating endopeptidase homolog, X-linked) gene, leading to elevated fibroblast growth factor 23 (FGF23) and chronic hypophosphatemia secondary to renal phosphate wasting. We report the case of a 3.5-year-old boy presenting with bilateral varus deformity of the lower limbs, frontal bossing, rachitic rosary, and growth retardation (-2.5 SD). Laboratory investigations revealed hypophosphatemia (0.88 mmol/L) with severely reduced urinary phosphate excretion (196.8 mg/24 h), elevated alkaline phosphatase (521 IU/L), and normal serum calcium and vitamin D levels. Exome sequencing identified a hemizygous pathogenic variant in PHEX: c.2192T>G (p.Phe731Cys), confirming the diagnosis of XLH. This case illustrates the decisive contribution of exome sequencing in confirming vitamin-resistant rickets and the importance of early diagnosis to prevent irreversible orthopedic sequelae.
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