children s health issues
Hypophosphatemic Rickets
Diagnosis of Hypophosphatemic Rickets
Blood and urine tests Sometimes bone x-rays Sometimes genetic testing Laboratory tests show that calcium levels in the blood are normal, but phosphate levels are low. Urine is also tested to detect the levels of phosphate that have been excreted. The phosphate levels in the urine are high. Doctors may also take x-rays of bones. Genetic testing can help confirm the diagnosis. Siblings of children who are affected should have a medical evaluation, including laboratory testing, imaging tests, and sometimes genetic testing. Genetic testing also may be offered to other family members. 