Familial Hypophosphatemic Rickets

Common Name(s)

Familial Hypophosphatemic Rickets, Familial x-linked hypophosphatemic vitamin D refractory rickets

X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activity of serum alkaline phosphatases (summary by {27:Gaucher et al., 2009}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Hypophosphatemic Rickets" for support, advocacy or research.

XLH Network, Inc.

The XLH Network’s mission is to facilitate research, education, and advocacy for XLH by creating resources and a community for affected families, educating and supporting physicians and other providers of medical care, and fostering the search for a cure.

Last Updated: 30 Mar 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Hypophosphatemic Rickets" for support, advocacy or research.

XLH Network, Inc.

The XLH Network’s mission is to facilitate research, education, and advocacy for XLH by creating resources and a community for affected families, educating and supporting physicians and other providers of medical care, and fostering the search for a cure.

http://www.xlhnetwork.org

Last Updated: 30 Mar 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial Hypophosphatemic Rickets" returned 10 free, full-text research articles on human participants. First 3 results:

Familial hypophosphatemic rickets.
 

Author(s): S Vivekanandan

Journal: J Indian Soc Pedod Prev Dent. ;29(3):278-9.

 

Last Updated: 11 Oct 2011

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Familial hypophosphatemic rickets.
 

Author(s): A Sattur, V G Naikmasur, R Shrivastava, M Babshet

Journal: J Indian Soc Pedod Prev Dent. ;28(4):302-6.

 

Rickets is the failure of mineralization of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in the serum phosphate levels leading to inadequate mineralization of cartilage and bone, consequent ...

Last Updated: 28 Jan 2011

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Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.
 

Author(s): Tasuku Saito, Yutaka Nishii, Toshiyuki Yasuda, Nobuaki Ito, Hisanori Suzuki, Takashi Igarashi, Seiji Fukumoto, Toshiro Fujita

Journal: Eur. J. Endocrinol.. 2009 Oct;161(4):647-51.

 

X-linked hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant and recessive hypophosphatemic rickets/osteomalacia (ADHR and ARHR) share common clinical features including high fibroblast growth factor 23 (FGF23) levels. These diseases are caused by mutations in phosphate ...

Last Updated: 21 Sep 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial Hypophosphatemic Rickets" returned 1 free, full-text review articles on human participants. First 3 results:

Evaluation of stature development during childhood and adolescence in individuals with familial hypophosphatemic rickets.
 

Author(s): Mauro M S Borghi, Veronica Coates, Hatim A Omar

Journal: ScientificWorldJournal. 2005 Oct;5():868-73.

 

This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within ...

Last Updated: 24 Oct 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets
 

Status: Recruiting

Condition Summary: Hypophosphatemic Rickets, X-Linked Dominant

 

Last Updated: 22 Oct 2007

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Calcitonin for Treating X-linked Hypophosphatemia
 

Status: Recruiting

Condition Summary: Hypophosphatemic Rickets, X Linked Dominant

 

Last Updated: 12 Jun 2014

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Last Updated: 5 Sep 2014

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