Phenotype presentation of hypophosphatemic rickets in adults

Signe S. Beck-Nielsen, Klaus Brusgaard, Lars M. Rasmussen, Kim Brixen, Bendt Brock-Jacobsen, Mette R. Poulsen, Peter Vestergaard, Stuart H. Ralston, Omar Al Bagha, Sven Poulsen, Dorte Haubek, Hans Gjoørup, Hanne Hintze, Mette G. Andersen, Lene Heickendorff, Jacob Hjelmborg, Jeppe Gram

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49 Citations (Scopus)


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 severitywas 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.

Original languageEnglish
Pages (from-to)108-119
Number of pages12
JournalCalcified Tissue International
Issue number2
Publication statusPublished - 2010
Externally publishedYes



  • Bone densitometry
  • Dental manifestation
  • Osteomalacia
  • Rickets
  • X-linked hypophosphatemic rickets

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine
  • Endocrinology

Cite this

Beck-Nielsen, S. S., Brusgaard, K., Rasmussen, L. M., Brixen, K., Brock-Jacobsen, B., Poulsen, M. R., Vestergaard, P., Ralston, S. H., Al Bagha, O., Poulsen, S., Haubek, D., Gjoørup, H., Hintze, H., Andersen, M. G., Heickendorff, L., Hjelmborg, J., & Gram, J. (2010). Phenotype presentation of hypophosphatemic rickets in adults. Calcified Tissue International, 87(2), 108-119.