X-Linked Hypophosphatemia
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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
Referral required

Indiana University Health University Hospital

550 University Blvd, 
Indianapolis, IN 
Languages Spoken:
English

Michael Econs is an Endocrinologist practicing medicine in Indianapolis, Indiana. Dr. Econs is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Osteosclerosis Autosomal Dominant, Osteopetrosis, X-Linked Hypophosphatemia, and Hypophosphatemia.

Elite in X-Linked Hypophosphatemia
Endocrinology
Elite in X-Linked Hypophosphatemia
Endocrinology
Referral required

Duke Endocrinology Clinic - Clinic 1A

30 Duke Medicine Cir, 
Durham, NC 
Experience:
37+ years
Languages Spoken:
English
Offers Telehealth

Thomas Weber is an Endocrinologist practicing medicine in Durham, North Carolina. He has been practicing medicine for over 37 years. Dr. Weber is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Hypophosphatemia, Rickets, X-Linked Hypophosphatemia, Malnutrition, and Parathyroidectomy. Dr. Weber is board certified in American Board Of Internal Med, Endocrinology, Diabetes & Meta.

 
 
 
 
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Elite in X-Linked Hypophosphatemia
Endocrinology
Elite in X-Linked Hypophosphatemia
Endocrinology
Referral may be required

IU Health Physicians Endocrinology Metabolism & Diabetes (University BLVD)

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

Erik Imel is an Endocrinologist practicing medicine in Indianapolis, Indiana. Dr. Imel is rated as an Elite provider by MediFind in the treatment of X-Linked Hypophosphatemia. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses X-Linked Hypophosphatemia, Malnutrition, Osteomalacia, Albright's Hereditary Osteodystrophy, and Parathyroidectomy.

What are the latest X-Linked Hypophosphatemia Clinical Trials?
The Impact of Phosphate Metabolism on Healthy Aging

Summary: Determine the association between duration and dose of chronic conventional therapy with Pi and renal (nephrocalcinosis/nephrolithiasis), vascular (endothelial function), and cardiovascular function (echo- cardiography) in patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and patients with X-linked hypophosphatemia (XLH).

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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