Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. In the month of August, we featured XLH.
X-linked hypophosphatemia (XLH) is a genetic disease caused by mutations in the PHEX gene. These mutations cause bone cells to secrete increased concentrations of a hormone responsible for inducing phosphate excretion in the kidneys, ultimately resulting in a deficiency of phosphate in the body. This can cause widespread issues throughout the body as phosphate plays an essential role in the proper function of bones and teeth. Most cases of XHL first present in childhood and males and females are considered to be equally affected.
Today, we are joined by Marian Hart, RN, BSN, CCRC. Marian is the Clinical Research Leader at Indiana University School of Medicine, Metabolic Bone Research. She has spent a large part of the last 15 years working in XLH.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
