11 min listen
Giving New Life Through X-linked Hypophosphatemia Research
FromDDx
ratings:
Length:
11 minutes
Released:
May 29, 2024
Format:
Podcast episode
Description
After a lifetime of treating her rare bone disease, X-linked hypophosphatemia, a patient is at the end of her rope. Due to a genetic variation of the X chromosome — specifically the PHEX gene — there’s an imbalance of phosphate levels in her body. Because of its domino effect on bone development and mineralization, the patient is in pain, she’s frustrated, and nothing seems to help. So when a clinical trial opportunity presents itself, Dr. Suzanne Jan de Beur, a professor of medicine and the Chief of Endocrinology and Metabolism at the University of Virginia, is unsure the patient will want to participate. While the decision to participate is surprising, the results of the clinical trial are astonishing.
Released:
May 29, 2024
Format:
Podcast episode
Titles in the series (63)
The source of the bleed.: A patient with an acute subdural hematoma presents with no sign of head trauma. The search for an answer almost overlooks an obvious question. by DDx