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 66 free, full-text research articles on human participants. First 3 results:

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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[Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].
 

Author(s): Shuang Liu, Min Wei, Juan Xiao, Chang-Yan Wang, Zheng-Qing Qiu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 May;16(5):518-23.

 

The clinical data of three Chinese children who had been definitely diagnosed with X-link dominate hypophosphatemic rickets (XLH) by gene mutation analysis of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) were retrospectively studied and the ...

Last Updated: 26 May 2014

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[Gene mutation analysis of X-linked hypophosphatemic rickets].
 

Author(s): Ying Song, Hong-Wei Ma, Fang Li, Man Hu, Shuang Ren, Ya-Fen Yu, Gui-Jie Zhao

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):928-31.

 

To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype.

Last Updated: 15 Nov 2013

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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 6 free, full-text review articles on human participants. First 3 results:

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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Material matters: a mechanostat-based perspective on bone development in osteogenesis imperfecta and hypophosphatemic rickets.
 

Author(s): F Rauch

Journal: J Musculoskelet Neuronal Interact. ;6(2):142-6.

 

This perspective paper presents a hypothesis that links abnormalities of bone material with densitometric findings in two congenital metabolic bone disorders, osteogenesis imperfecta type I (OI) and X-linked hypophosphatemic rickets (XLH). Analyses of iliac bone samples from OI patients ...

Last Updated: 19 Jul 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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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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A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia
 

Status: Recruiting

Condition Summary: X-linked Hypophosphatemic Rickets/Osteomalacia

 

Last Updated: 2 Jul 2014

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

Status: Recruiting

Condition Summary: Autosomal Dominant Hypophosphatemic Rickets

 

Last Updated: 2 Sep 2014

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