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Phenotype Presentation of Hypophosphatemic Rickets in Adults

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Abstract

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.

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Acknowledgements

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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Authors and Affiliations

  1. Department of Pediatrics, H. C. Andersen Children’s Hospital, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense, Denmark

    Signe S. Beck-Nielsen & Bendt Brock-Jacobsen

  2. Institute of Clinical Research, University of Southern Denmark, 5000, Odense, Denmark

    Signe S. Beck-Nielsen, Lars M. Rasmussen, Kim Brixen, Bendt Brock-Jacobsen & Mette R. Poulsen

  3. Department of Biochemistry, Pharmacology and Genetics, Odense University Hospital, 5000, Odense, Denmark

    Klaus Brusgaard & Lars M. Rasmussen

  4. Department of Endocrinology, Odense University Hospital, 5000, Odense, Denmark

    Kim Brixen

  5. Department of Radiology, Odense University Hospital, 5000, Odense, Denmark

    Mette R. Poulsen

  6. Department of Endocrinology, Aarhus University Hospital, 8000, Aarhus, Denmark

    Peter Vestergaard

  7. Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, United Kingdom

    Stuart H. Ralston & Omar M. E. Albagha

  8. Department of Pediatric Dentistry, School of Dentistry, University of Aarhus, 8000, Aarhus, Denmark

    Sven Poulsen, Dorte Haubek, Hans Gjørup & Mette G. Andersen

  9. Center of Oral Health in Rare Conditions, Aarhus University Hospital, 8000, Aarhus, Denmark

    Hans Gjørup

  10. Department of Oral Radiology, School of Dentistry, University of Aarhus, 8000, Aarhus, Denmark

    Hanne Hintze

  11. Department of Clinical Biochemistry, Aarhus University Hospital, 8000, Aarhus, Denmark

    Lene Heickendorff

  12. Department of Biostatistics, University of Southern Denmark, 5000, Odense, Denmark

    Jacob Hjelmborg

  13. Department of Endocrinology, Hospital of Southwest Denmark, 6700, Esbjerg, Denmark

    Jeppe Gram

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  1. Signe S. Beck-Nielsen
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Correspondence to Signe S. Beck-Nielsen.

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Beck-Nielsen, S.S., Brusgaard, K., Rasmussen, L.M. et al. Phenotype Presentation of Hypophosphatemic Rickets in Adults. Calcif Tissue Int 87, 108–119 (2010). https://doi.org/10.1007/s00223-010-9373-0

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