Calcified Tissue International

, Volume 87, Issue 2, pp 108–119 | Cite as

Phenotype Presentation of Hypophosphatemic Rickets in Adults

  • Signe S. Beck-NielsenEmail author
  • Klaus Brusgaard
  • Lars M. Rasmussen
  • Kim Brixen
  • Bendt Brock-Jacobsen
  • Mette R. Poulsen
  • Peter Vestergaard
  • Stuart H. Ralston
  • Omar M. E. Albagha
  • Sven Poulsen
  • Dorte Haubek
  • Hans Gjørup
  • Hanne Hintze
  • Mette G. Andersen
  • Lene Heickendorff
  • Jacob Hjelmborg
  • Jeppe Gram


Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The purpose of this cross-sectional study of 38 HR patients was to characterize the phenotype of adult HR patients. Moreover, skeletal and endodontic severity scores were defined to assess possible gender differences in disease severity in patients with genetically verified X-linked HR. Compared to normal reference data, i.e., z = 0, HR patients had significantly lower final height, with a mean difference in z-score of −1.9 (95% CI −2.4 to −1.4, P < 0.001). Compared to paired z-scores of final height, z-scores of leg length were significantly lower and those of sitting height were significantly higher (P < 0.001), resulting in disproportion as indicated by the significantly elevated sitting height ratio, mean difference in z-score of 2.6 (95% CI 2.1–3.1, P < 0.001). Z-scores of head circumference (median 1.4, range −0.4 to 5.5, P < 0.001) and z-scores of bone mineral density (BMD) of the lumbar spine (median 1.9, range −1.5 to 8.6, P < 0.001) were significantly elevated compared to normal reference data. The relative risk (RR) of fracture was reduced (RR = 0.34, 95% CI 0.20–0.57, P < 0.001). The skeletal severity score tended to be higher in males compared to females (P = 0.07), and no gender difference in endodontic severity was found. In conclusion, adult HR patients were characterized by short stature and were disproportioned. They had elevated BMD of the lumbar spine and a reduced risk of fractures. We found a tendency for males to be more severely affected than females.


X-linked hypophosphatemic rickets Osteomalacia Rickets Bone densitometry Dental manifestation 



We thank Elizabeth Hanmann, Bente Toet, Lise Gedebjerg, and Marianne Boetcher for performing the DEXA scans and collecting the laboratory samples and Inge Moeller for efficient assistance in organizing the dental examinations. This work was funded by grants from the A. J. Andersen og Hustrus Fond, A. P. Moeller Foundation for the Advancement of Medical Science, Herta Christensens Fond, Institute of Clinical Research of the University of Southern Denmark, Direktoer Jacob Madsen og Hustru Olga Madsens Fond, Karola Joergensens Forskningsfond, K. A. Rohde og Hustrus legat, Simon Fougner Hartmanns Familiefond, Else Poulsens mindelegat, Institut for Regional Sundhedsforskning, Danish Dental Association, and Aarhus University Research Foundation.


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Signe S. Beck-Nielsen
    • 1
    • 2
    Email author
  • Klaus Brusgaard
    • 3
  • Lars M. Rasmussen
    • 2
    • 3
  • Kim Brixen
    • 2
    • 4
  • Bendt Brock-Jacobsen
    • 1
    • 2
  • Mette R. Poulsen
    • 2
    • 5
  • Peter Vestergaard
    • 6
  • Stuart H. Ralston
    • 7
  • Omar M. E. Albagha
    • 7
  • Sven Poulsen
    • 8
  • Dorte Haubek
    • 8
  • Hans Gjørup
    • 8
    • 9
  • Hanne Hintze
    • 10
  • Mette G. Andersen
    • 8
  • Lene Heickendorff
    • 11
  • Jacob Hjelmborg
    • 12
  • Jeppe Gram
    • 13
  1. 1.Department of PediatricsH. C. Andersen Children’s Hospital, Odense University HospitalOdenseDenmark
  2. 2.Institute of Clinical ResearchUniversity of Southern DenmarkOdenseDenmark
  3. 3.Department of Biochemistry, Pharmacology and GeneticsOdense University HospitalOdenseDenmark
  4. 4.Department of EndocrinologyOdense University HospitalOdenseDenmark
  5. 5.Department of RadiologyOdense University HospitalOdenseDenmark
  6. 6.Department of EndocrinologyAarhus University HospitalAarhusDenmark
  7. 7.Institute of Genetics and Molecular MedicineUniversity of Edinburgh, Western General HospitalEdinburghUnited Kingdom
  8. 8.Department of Pediatric Dentistry, School of DentistryUniversity of AarhusAarhusDenmark
  9. 9.Center of Oral Health in Rare ConditionsAarhus University HospitalAarhusDenmark
  10. 10.Department of Oral Radiology, School of DentistryUniversity of AarhusAarhusDenmark
  11. 11.Department of Clinical BiochemistryAarhus University HospitalAarhusDenmark
  12. 12.Department of BiostatisticsUniversity of Southern DenmarkOdenseDenmark
  13. 13.Department of EndocrinologyHospital of Southwest DenmarkEsbjergDenmark

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