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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypophosphatemic rickets


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Your Question

My son has hypophosphatemic rickets and frequently develops abscesses in his mouth. Our doctor believes this is due to the weakened bones caused by this condition. Can you give me more information on this?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the long-term outlook for people with hypophosphatemic rickets?

The long-term outlook (prognosis) for people with hypophosphatemic rickets is good. With appropriate management, normal health and normal lifespan are expected.[1]

If the condition is not treated (especially while children are growing), skeletal deformities may be permanent.[2]
Last updated: 3/1/2016

What is hypophosphatemic rickets?

Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood.[3] Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones closes too soon (craniosynostosis). This sometimes results in developmental abnormalities. Hypophosphatemic rickets is almost always inherited and may be caused by changes (mutations) in any of several genes.[3] Most commonly it is due to the PHEX gene and inherited in an X-linked dominant manner. Less commonly it is inherited in an X-linked recessive manner (often called Dent disease); autosomal dominant manner; or autosomal recessive manner.[4][5] Treatment involves taking phosphate and calcitriol in order to raise phosphate levels in the blood and promote normal bone formation.[3]
Last updated: 3/1/2016

What are the signs and symptoms of hypophosphatemic rickets?

The symptoms of hypophosphatemic rickets usually begin in infancy or early childhood. Specific symptoms and severity can vary greatly among affected children. The condition can be so mild that there are no noticeable symptoms, or so severe that it causes bowing of the legs and other bone deformities; bone pain; joint pain; and short stature. Other symptoms may include premature closure of the skull bones in babies (craniosynostosis); limited joint movement; and dental abnormalities.[3][4] If left untreated, symptoms worsen over time.[4]
Last updated: 3/1/2016

Can hypophosphatemic rickets lead to frequent dental abscesses?

The presence of severe dental complications among people with Hypophosphatemic Rickets is now well recognized and is an important part of symptom management [6]. Spontaneous dental abscesses are frequently encountered in hypophosphatemic rickets.[7][8][9] Both primary and permanent teeth may be affected.[9] These abscesses occur in the absence of a history of trauma or dental decay and result from hypomineralization of the dentine and enlargement of the pulp.[7][8][10] 
 
Last updated: 3/2/2016

How might the dental features of hypophosphatemic rickets be managed?

The challenge for the dentist is to prevent and treat these lesions.[8][10] Treatment of children with hypophosphatemic rickets with 1-(OH) vitamin D and oral phosphate helps to insure good dentin development and mineralization, and may prevent clinical anomalies such as the dental necrosis classically associated with the disease. Starting treatment during early childhood and good adherence to the therapy are necessary to observe these beneficial effects.[11] If dental features are already present, the application of fluid resin composites with a self-etching primer bonding system to all primary teeth has been shown to prevent abscess formation in some individuals for more than 1 year. This may lead to the avoidance of endodontic treatment or extraction down the line.[8]




Last updated: 9/13/2009

Where can I learn more about the dental issues faced by individuals with hypophosphatemic rickets?

You can find relevant journal articles on dental abcesses in patients with hypophosphatemic rickets through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here.  Some articles are available as a complete document, while information on other studies is available as a summary abstract.  To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "hypophosphatemic rickets AND abscesses" as your search term should locate articles. To narrow your search, click on the “Limits” tab under the search box and specify your criteria for locating more relevant articles.  Click here to view a search.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.


Last updated: 9/13/2009

References
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.