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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?
Elite in X-Linked Hypophosphatemia
Endocrinology
Elite in X-Linked Hypophosphatemia
Endocrinology

Indiana University Health University Hospital

550 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.

Elite in X-Linked Hypophosphatemia
Endocrinology
Elite in X-Linked Hypophosphatemia
Endocrinology

IU Health Physicians Endocrinology Metabolism & Diabetes (University BLVD)

550 University Blvd # 2180, 
Indianapolis, IN 
Languages Spoken:
English

Erik Imel is an Endocrinologist in Indianapolis, Indiana. Dr. Imel is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. His top areas of expertise are X-Linked Hypophosphatemia, Malnutrition, Osteomalacia, Albright's Hereditary Osteodystrophy, and Parathyroidectomy.

 
 
 
 
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Elite in X-Linked Hypophosphatemia
Pediatric Endocrinology
Elite in X-Linked Hypophosphatemia
Pediatric Endocrinology

Yale New Haven Childrens Hospital

1 Park St, 
New Haven, CT 
Languages Spoken:
English

Thomas Carpenter is a Pediatric Endocrinologist in New Haven, Connecticut. Dr. Carpenter is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. His top areas of expertise are X-Linked Hypophosphatemia, Malnutrition, Osteomalacia, Osteotomy, and Parathyroidectomy.

What are the latest X-Linked Hypophosphatemia Clinical Trials?
Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts From Patients Requiring Craniosynostosis Surgery for Idiopathic Reason or Due to Hypophosphatemic Rickets (HR)

Summary: FGF23 is the cornerstone of phosphate / calcium / vitamin D metabolism: it is synthesized mainly by osteocytes and acts as a phosphaturizing agent, inhibitor of dihydroxyvitamin D, and inhibitor of synthesis and secretion of PTH in most tissues. The specific role of FGF23 on bone has yet to be demonstrated. In osteoblasts, overexpression of FGF23 in vitro suppresses not only osteoblastic different...

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