The Impact of Phosphate Metabolism on Healthy Aging
Determine the association between duration and dose of chronic conventional therapy with Pi and renal (nephrocalcinosis/nephrolithiasis), vascular (endothelial function), and cardiovascular function (echo- cardiography) in patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and patients with X-linked hypophosphatemia (XLH).
• Children above the age of 13 years
• Younger and older adults with XLH and HHRH with confirmed NPT2c mutations affecting both copies of the NPT2c gene (HHRH) or one copy of the PHEX gene (XLH)
• Be willing to provide access to prior medical records to determine eligibility including imaging, biochemical, medical, and surgical history data
• Be willing and able to complete all aspects of the study
• Be willing to adhere to the study visit schedule and comply with the assessments (in the opinion of the investigator).