X-Linked Hypophosphatemia
How is it treated?
Treatment is usually directed toward stabilising the blood phosphorus levels, by means of oral phosphate medications and the active Vitamin D hormone, 1,25 D3 (calcitriol) or 1-alpha D3. Although in some cases osteotomies are required to correct pronounced lower leg deformities, in other cases a dramatic response to the medication is achieved, and the lower legs straighten over several years of growth. Complications can include an associated increase in renal calcium (nephrocalcinosis) and elevated parathyroid hormone (PTH) levels. Regular monitoring of these blood tests, and ultrasound examination of the kidneys, are part of the standard care associated with this condition.
How is it diagnosed?
| Inheritance patterns and prenatal diagnosis ![]()