Journal of Disability and Oral Health

cover art

Cover Date:
June 2016
Print ISSN:
1470-8558
Vol:
17
Issue:
2

X-linked hypophosphatasia, a battle to save the dentition: a review and case report of a patient’s journey highlighting the effects of x-linked hypophosphatasia on the dentition and possible dental..

Introduction
Hypophosphatemic rickets represents a group of inheritable disorders with very similar features. Currently there are three known forms of inheritance: autosomal dominant (ADHR), autosomal recessive (ARHR) and Xlinked dominant (XLH) (Souzar et al., 2010). The phenotype of X-linked hypophosphatasia (XLH) was first described in
1937 by Albright. X-linked hypophosphatasia (XLH), previously referred to as vitamin D-resistant rickets and
familial hypophosphatemic rickets (Batra et al., 2006; Carpenter et al., 2011), although rare is the most common
form of inherited rickets, with an estimated incidence of about 1 in 20,000 births (Yuan et al., 2008; Whyte, 2009; Carpenter et al., 2011). The basic physiological defect in XLH is impaired proximal renal tubular reabsorption of phosphate. It is characterised by low serum alkaline phosphatase activity (Whyte, 2009; Carpenter et al., 2011). This leads to many abnormalities of bone and other mineralised tissues including those of the dentition. The genetic basis for XLH is loss-of-function of PHEX (Phosphate regulating gene with Homology to Endopeptidases located on the X chromosome). PHEX is a member of the M13 family of neutral endopeptidases, which activate or degrade peptides, is expressed in bones and teeth, and localises to the cell surface (Yuan et al., 2008; Whyte, 2009; Carpenter et al., 2011).

Key words: X-linked hypophosphotasia, restorative, dentistry, endodontics, prevention

Doi: 10.443/JDOH/Truman_06

Article Price
£15.00
Institution Article Price
£0.00
Page Start
98
Page End
103
Authors
A D Truman, L D Addy, L A Blackburn

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