How Is X-Linked Hypophosphatemia Diagnosed?
To diagnose X-linked hypophosphatemia, a healthcare provider first needs to get information about the family history of this condition. Next, they will conduct a physical exam, imaging techniques like X-rays, and blood tests. The results of these procedures may indicate some factors that can help make a diagnosis. These include:
– Phosphate wasting in the kidneys
– Lower levels of phosphate even after treatment with vitamin D
– A slower growth rate
– Bowing legs
– Low phosphate levels in the blood and high FGF23 amounts
Because X-linked hypophosphatemia is inherited, genetic counseling would help people with this disease and their families learn more about the available tests, treatment options, and outlook. This is important to make an informed decision, especially for those couples who are considering having the first or more children. [5]
