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Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Stefano Stagi1, Cristina Manoni2, Perla Scalini2

  • 1Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy. stefano.stagi@yahoo.it.

Hormones (Athens, Greece)
|July 11, 2016
PubMed

Insights

Patients with Williams-Beuren syndrome (WBS) have reduced bone mineral density and impaired bone metabolism, including lower bone formation markers. Close monitoring of bone health is recommended for individuals with WBS.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Williams-Beuren syndrome (WBS) is a genetic disorder associated with various health complications.
  • Bone health is a critical aspect of overall well-being, particularly in individuals with genetic syndromes.

Purpose of the Study:

  • To investigate bone mineral status and metabolism in a cohort of patients diagnosed with Williams-Beuren syndrome.
  • To compare bone health markers in WBS patients against healthy controls.

Main Methods:

  • Cross-sectional evaluation of 31 children and 10 young adults with WBS.
  • Comparison with age-, sex-, and body-size-matched healthy pediatric and adult control groups.
  • Assessment of serum calcium, phosphate, parathyroid hormone (PTH), vitamin D metabolites, osteocalcin, bone alkaline phosphatase, and urinary deoxypyridinoline.

Main Results:

  • WBS patients exhibited significantly reduced bone mineral status, indicated by lower phalangeal amplitude-dependent speed of sound (AD-SoS) and bone transmission time (BTT) z-scores.
  • Elevated levels of ionized and total calcium and PTH were observed in WBS patients.
  • WBS children and adolescents showed significantly lower serum osteocalcin and urinary deoxypyridinoline concentrations, suggesting impaired bone metabolism.

Conclusions:

  • Williams-Beuren syndrome is associated with compromised bone mineral status and altered bone metabolism.
  • The findings highlight the necessity for vigilant monitoring of bone health in WBS patients.
  • Further research may elucidate specific therapeutic strategies to address bone abnormalities in WBS.
Abstract

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