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The role of parathyroid hormone in the pathogenesis of skeletal disease in X-linked hypophosphatemic rickets (XLH)

Research Faculty & Summary

Thomas Carpenter, Principal Investigator
Karl Insogna, Co-investigator
Elizabeth Olear, Research Associate

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.

We hypothesize that elevated PTH levels may significantly contribute to the skeletal disease in XLH. We are presently conducting clinical studies that examine this idea in two ways.

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FGF23 in untreated (left columns) and treated (right columns) XLH subjects.