X Linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is known as the most common hereditary metabolic rickets with a prevalence of 1:20,000- 60,000. Manifestations are bone deformities (particularly bowing of the lower extremities), bone pain, reduced growth, low serum phosphate with inappropriately normal serum 1,25(OH)2D levels, and phosphate wasting in the urine. Both man and women are affected. The cause is genetic mutation is of the phosphate-regulating gene PHEX resulting in reduced phosphate reabsorption by the kidneys, low blood phosphate, and as a consequence ‘weak’ bones. There is a general lack of awareness of XLH, which frequently leads to missed diagnoses and mismanagement.