ABSTRACT
X-linked hypophosphatemia (XLH) is a common genetic bone disease in humans. It is the most frequent cause of rickets in the U.S. Unlike rickets caused by vitamin D deficiency, these patients are resistant to therapy with low doses of vitamin D.' In this disease, there is low renal tubular reabsorption of phosphate, hypophosphatemia, low-to-normal plasma 1,25-dihydroxyvitamin D, and rachitic and osteomalacic bone disease.1 The human disease is discussed in Chapter 9. The goal of this chapter is to discuss the mouse models for this disease and the insights gained from these mice into the pathophysiology of the human disease.
