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

Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families.
 

Author(s): Hong Liao, Hong-Mei Zhu, Hong-Qian Liu, Ling-Ping Li, Shan-Ling Liu, He Wang

Journal: Int. J. Mol. Med.. 2018 Apr;41(4):2012-2020.

 

X‑linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X‑linked dominant disorder caused by mutations in the phosphate‑regulating neutral endopeptidase homolog X‑linked (PHEX) gene, which is located at Xp22.11. In the present study, two novel variants of the PHEX gene ...

Last Updated: 31 Dec 1969

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Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice.
 

Author(s): Liping Xiao, Erxia Du, Collin Homer-Bouthiette, Marja M Hurley

Journal: Endocrinology. 2017 10;158(10):3629-3646.

 

Transgenic mice harboring high molecular weight fibroblast growth factor (FGF)2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic ...

Last Updated: 31 Dec 1969

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[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
 

Author(s): Qing Ran, Feng Xiong, Min Zhu, Lei-Li Deng, Pei-Yun Lei, Yan-Hong Luo, Yan Zeng, Gao-Hui Zhu, Cui Song

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):534-538.

 

To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology.

Last Updated: 31 Dec 1969

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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:

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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Autosomal Dominant Hypophosphatemic Rickets

 

Last Updated: 9 Aug 2017

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Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
 

Status: Recruiting

Condition Summary: Generalized Arterial Calcification of Infancy; Autosomal Recessive Hypophosphatemic Rickets Type 2

 

Last Updated: 14 Aug 2018

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Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets
 

Status: Recruiting

Condition Summary: Hypophosphatemia; Hypophosphatemic Rickets; Pain, Chronic

 

Last Updated: 26 Jun 2018

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