Presentation and Diagnosis of Pediatric X-Linked Hypophosphatemia

X-linked hypophosphatemia (XLH) is a rare type of hereditary hypophosphatemic rickets. Patients with XLH have various symptoms that lower their QOL as defined by HAQ, RAPID3, SF36-PCS, and SF36-MCS in adult patients SF-10 PDCOI pediatric patients. Early diagnosis treatment are needed to reduce the burden, but condition often diagnosed late childhood. The present review aims summarize symptoms, radiological biological characteristics, long-term prognosis XLH. Typical leg deformities (age six months or later), growth impairment (first year life delayed gross motor development progressive limb (second later). Other include dental abscess, bone pain, hearing impairment, Chiari 1 malformation. Critical, findings rickets metaphyseal widening, cupping, fraying, which tend occur load-bearing bones. Rickets Severity Score, validated for XLH, useful assessing severity biochemical features elevated FGF23, hypophosphatemia, low 1,25(OH)2D, urine phosphate. Renal phosphate wasting can be assessed using tubular maximum reabsorption per glomerular filtration rate (TmP/GFR), yields values should early because multisystem worsen over time. help physicians diagnose at an stage.