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Learn About X-Linked Hypophosphatemia

What is the definition of X-Linked Hypophosphatemia?
X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature, bone pain, and severe dental pain. XLH is caused by genetic changes in the PHEX gene on the X chromosome, and inheritance is X-linked dominant.
What are the alternative names for X-Linked Hypophosphatemia?
  • X-linked hypophosphatemia
  • HPDR
  • Hypophophatemia, X-linked
  • Hypophophatemic vitamin D-resistant rickets
  • Hypophosphatemic rickets, X-linked dominant
  • Vitamin D-Resistant Rickets, X-linked
  • X-linked hypophosphatemic rickets
  • XLH
Who are the top X-Linked Hypophosphatemia Local Doctors?
Maria L. Brandi
Elite in X-Linked Hypophosphatemia
Elite in X-Linked Hypophosphatemia
Florence, IT 

Maria Brandi practices in Florence, Italy. Brandi is rated as an Elite expert by MediFind in the treatment of X-Linked Hypophosphatemia. Their top areas of expertise are Osteoporosis, Hypophosphatemia, X-Linked Hypophosphatemia, Parathyroidectomy, and Hormone Replacement Therapy (HRT).

Leanne M. Ward
Elite in X-Linked Hypophosphatemia
Elite in X-Linked Hypophosphatemia
401 Smyth Rd, R250H, K1H 8L1, 
Ottawa, ON, CA 

Leanne Ward practices in Ottawa, Canada. Ms. Ward is rated as an Elite expert by MediFind in the treatment of X-Linked Hypophosphatemia. Her top areas of expertise are Rickets, X-Linked Hypophosphatemia, Hypophosphatemia, and Malnutrition.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in X-Linked Hypophosphatemia
Endocrinology
Elite in X-Linked Hypophosphatemia
Endocrinology

University Medical Diagnostic Associates Inc

550 N University Blvd, 
Indianapolis, IN 
Languages Spoken:
English

Michael Econs is an Endocrinologist in Indianapolis, Indiana. Dr. Econs is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. His top areas of expertise are Osteosclerosis Autosomal Dominant, Osteopetrosis, X-Linked Hypophosphatemia, and Hypophosphatemia.

What are the latest X-Linked Hypophosphatemia Clinical Trials?
A Retrospective Observational Study of the Effect of Dosing Regimen of Burosumab on Biochemical Control of Serum Phosphate Levels in Patients With X-linked Hypophosphataemia (XLH)

Summary: X-linked hypophosphataemia (XLH) is a rare, hereditary condition. The genetic defect leads to low blood phosphate levels and vitamin D suppression. Phosphate is required for strong bones and teeth and to store energy in cells. Low phosphate leads to soft bones (rickets). Patients experience bowed legs, short stature, bone pain and dental pain. Prior to Burosumab, conventional treatment of XLH prev...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center