The role of parathyroid hormone in the pathogenesis of skeletal disease in X-linked hypophosphatemic rickets (XLH)
XLH is the most common heritable form of rickets/osteomalacia in the United States. The disorder is characterized by renal phosphate wasting, rickets and limited growth in childhood. Osteomalacia and fractures occur in adults. At all ages and irrespective of treatment there is a high incidence of secondary hyperparathyroidism.
1 – 3 have two isoforms produced by alternate splicing which differ in their ligand-binding specificities and tissue expression patterns.