Hypophosphatemic rickets consists of a rare group of genetic disorders that cause renal phosphate wasting and decreased levels of 1,25 dihydroxyvitamin D. Clinically, it leads to rickets in children and bone pain, muscle weakness and osteomalacia in adults . Fibroblast growth factor- 3 (FGF23) levels are increased in both x-linked hypophosphatemic XLH and autosomal dominant hypophosphatemic rickets (ADHR) and play an important role in the pathogenesis of both conditions. Conventional treatment for both conditions consists of calcitriol and phosphate supplementation. Advances in the management of hypophosphatemic rickets include Burosumab, a monoclonal antibody against FGF-23 and the discovery that iron deficiency plays a role in the clinical manifestations of ADHR.
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FACULTY AND DISCLOSURES
Lakshmi Menon, M.D.
Assistant Professor,Department of Internal Medicine, Division of Endocrinology
University of Arkansas for Medical Sciences
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