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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
[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

Go To URL
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.
 

Author(s): Hua Yue, Jin-bo Yu, Jin-wei He, Zeng Zhang, Wen-zhen Fu, Hao Zhang, Chun Wang, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Yu-juan Liu, Zhen-Lin Zhang

Journal:

 

X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese families and 3 sporadic patients with hypophosphatemic ...

Last Updated: 19 May 2014

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

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

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

Status: Recruiting

Condition Summary: Autosomal Dominant Hypophosphatemic Rickets

 

Last Updated: 6 Apr 2015

Go to URL
Calcitonin for Treating X-linked Hypophosphatemia
 

Status: Recruiting

Condition Summary: Hypophosphatemic Rickets, X Linked Dominant

 

Last Updated: 26 Feb 2015

Go to URL