Thelansis

X-linked hypophosphatemia (XLH) is a hereditary disorder affecting phosphate metabolism. It arises from mutations in the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene. These mutations result in local and systemic effects, encompassing impaired growth, bone pain, osteomalacia, bone deformities, rickets, spontaneous dental abscesses, osteoarthritis, enthesopathy, hearing issues, and muscular dysfunction. XLH patients exhibit elevated levels of fibroblast growth factor 23 (FGF23). Diagnosis relies on a consistent medical history, physical examination, radiological evidence of rickets, biochemical tests, and a family history indicating the presence of XLH, whether through multiple generations or sporadic occurrences. The differential diagnosis should consider nutritional rickets, metaphyseal dysplasia, and other renal phosphate wasting disorders. Fibroblast growth factor 23 (FGF23) is primarily produced by osteocytes and osteoblasts, playing a crucial role in regulating ...