Hypophosphatemic rickets

Common Name(s)

Hypophosphatemic rickets, X-linked Hypophosphatemic Rickets

Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily because the blood contains low levels of phosphate and has inadequate amounts of the active form of vitamin D.  The condition can be caused by mutations in the phosphate-regulating endopeptidase gene, also known as the PHEX gene and is nearly always inherited. The aim of treatment is to raise phosphate levels in the blood, which will promote normal bone formation. Phosphate can be taken by mouth and should be combined with calcitriol, the activated form of vitamin D.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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 "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 "Hypophosphatemic rickets" returned 79 free, full-text research articles on human participants. First 3 results:

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
 

Author(s): Sara L Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G Sampson, Vijay Kher, Sidharth K Sethi, Edgar A Otto

Journal:

 

Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this study were to perform molecular ...

Last Updated: 25 Jun 2015

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Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study.
 

Author(s): T R Ribeiro, F W G Costa, E C S Soares, J R Williams, C S R Fonteles

Journal: Dentomaxillofac Radiol. 2015 ;44(5):20140347.

 

The aim of the present study was to analyse the mineralization pattern of enamel and dentin in patients affected by X-linked hypophosphatemic rickets (XLHR) using micro-CT (µCT), and to associate enamel and dentin mineralization in primary and permanent teeth with tooth position, ...

Last Updated: 23 Apr 2015

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Cervical spinal cord compression caused by X-linked hypophosphatemic rickets with a novel PHEX mutation.
 

Author(s): Fei Xie, Zhi-dong Cen, Li-li Chen, Wei Luo

Journal: Neurol India. ;62(4):457-9.

 

Last Updated: 20 Sep 2014

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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 "Hypophosphatemic rickets" returned 7 free, full-text review articles on human participants. First 3 results:

Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.
 

Author(s): Kenneth E White, Julia M Hum, Michael J Econs

Journal: Curr Osteoporos Rep. 2014 Sep;12(3):252-62.

 

Rapid and somewhat surprising advances have recently been made toward understanding the molecular mechanisms causing heritable disorders of hypophosphatemia. The results of clinical, genetic, and translational studies have interwoven novel concepts underlying the endocrine control ...

Last Updated: 13 Aug 2014

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Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review.
 

Author(s): Maria P Yavropoulou, Kalliopi Kotsa, Anna Gotzamani Psarrakou, Alphalexandra Papazisi, Tauheoni Tranga, Stelios Ventis, John G Yovos

Journal: Hormones (Athens). ;9(3):274-8.

 

X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and ...

Last Updated: 6 Aug 2010

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Hypophosphatemic rickets and osteomalacia.
 

Author(s): Hamilton de Menezes Filho, Luiz Claudio G de Castro, Durval Damiani

Journal: Arq Bras Endocrinol Metabol. 2006 Aug;50(4):802-13.

 

The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia ...

Last Updated: 22 Nov 2006

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Symptoms, Diagnosis, and Treatment

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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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Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.
 

Status: Recruiting

Condition Summary: Autosomal Dominant Hypophosphatemic Rickets

 

Last Updated: 12 Apr 2016

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Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)
 

Status: Recruiting

Condition Summary: X-linked Hypophosphatemia

 

Last Updated: 20 May 2016

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