To support and supplement the brochure, here are some journal articles relevant to dental issues:
1. Treatment considerations:"Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease." (by Thomas Carpenter, et al., J Clin Endocrinol Metab. 2015 Oct)
http://www.ncbi.nlm.nih.gov/pubmed/26176801"Conventional Therapy in Adults With XLH Improves Dental Manifestations, But Not Enthesopathy."
(Commentary on the above article, by Michael Econs, MD, J Clin Endocrinol Metab. 2015 Oct)
http://www.ncbi.nlm.nih.gov/pubmed/26439151"Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia." J. Dent. Res. November 2016
https://www.ncbi.nlm.nih.gov/pubmed/27821544 Key portion of abstract: "We observed that periodontitis frequency and severity were increased in adults with XLH and that the severity varied according to the hypophosphatemia treatment. Patients who benefited from an early and continuous vitamin D and phosphate supplementation during their childhood presented less periodontal attachment loss than patients with late or incomplete supplementation. Continued hypophosphatemia treatment during adulthood further improved the periodontal health."
"Oral symptoms and oral health-related quality of life of individuals with x-linked hypophosphatemia." Head Face Med 2019
Conclusion: "The majority of the study participants reported oral involvement in the context of XLH, especially dental hard tissue mineralisation disorders, abscess formation and fistula formation. Those individuals affected by XLH with oral manifestations exhibited a tendency toward a worse OHRQoL [Oral Health-related Quality of Life] than those without oral symptoms."
Abstract with a link to the full article here:
https://www.ncbi.nlm.nih.gov/pubmed/30904023Presentation by Raghbir Kaur, DMD, at Quinnipiac University in 2013, starting around the 20-minute mark, (Note that this is before burosumab was available, so it's not addressed here):
2. Statistics on the incidence of dental issues in XLH patients:"The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey" J. Endocr Soc 2019
Conclusion with respect to dental issues: "Dental abscesses were reported in 51% (46/90) of children and 82% (189/232) of adults. Excessive cavities were reported in 24% (22/90) of children and 52% (121/232) of adults. A history of root canal surgery was reported for 17% (15/90) of children and 72% (166/232) of adults. Twenty-two of the adults surveyed reported failure of dental implants."
Link to free article:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595532/3. Biochemistry of XLH bones and teeth"Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia." Ther Adv Chronic Dis, October 2018.
Conclusion: "Our data demonstrating anionic substitution in human dentin from individuals with XLH validate the use of dentin as a proxy for bone and to better understand the molecular adaptations that occur in the biochemical milieu of XLH."
"Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures." Journal of Dental Research, September 2017
https://www.ncbi.nlm.nih.gov/pubmed/288807154. Case studies"Prosthetic rehabilitation of a patient with X-linked hypophosphatemia using dental implants: a case report and review of the literature." Int J Implant Dent 2019
Conclusion: "This case report shows a common presentation and progression of a patient with X-linked hypophosphatemia and will hopefully provide further positive evidence for the clinician to rely on when considering dental implant based treatments for such patients."
You can read the abstract and get a link to the full article (free) here:
https://www.ncbi.nlm.nih.gov/pubmed/31006822"Dental Management of Patients with XLH," Restor Dent Endo, May 2017
https://www.ncbi.nlm.nih.gov/pubmed/28503481Note that this article was written before the new treatment, burosumab (marketed as Crysvita) was approved, so it doesn't address potential benefits from this new treatment.
"X-linked hypophosphatemic rickets: enamel abnormalities and oral clinical findings."
Scanning, July 2014
https://www.ncbi.nlm.nih.gov/pubmed/24677288"Endodontic management in a patient with vitamin D-resistant Rickets."
Journal of Endodontics, 2012
Note: Ignore the reference to VDRR instead of XLH. It's old terminology.
Conclusion: Early diagnosis, conventional treatment, and continuous radiographic examination are important factors in improving dental alterations in patients with VDRRs.
https://www.ncbi.nlm.nih.gov/pubmed/222446485. New treatment option overview: burosumab (not specific to dental issues)"Burosumab versus conventional therapy in children with X-linked hypophosphataemia" Lancet, 2019
This article summarizes a clinical trial for children, comparing "conventional" treatment (Phosphate and calcitriol supplements) to burosumab treatment. They concluded:
"Significantly greater clinical improvements were shown in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia treated with burosumab compared with those continuing conventional therapy."
6. More information on hypophosphatemia generally (not specific to dental issues)Excellent presentation by Karl Insogna, MD (Yale University) on hypophosphatemia, the biochemistry, and treatment:
