Bone involvement and mineral metabolism in Williams’ syndrome
Context The previous studies suggested a possible increased risk of hypercalcaemia and reduced bone mineral density (BMD) in Williams’ syndrome (WS). However, an extensive study regarding bone metabolism has never been performed. Objective To investigate bone health in young adults with WS. Design C...
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Veröffentlicht in: | Journal of endocrinological investigation 2019-03, Vol.42 (3), p.337-344 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Context
The previous studies suggested a possible increased risk of hypercalcaemia and reduced bone mineral density (BMD) in Williams’ syndrome (WS). However, an extensive study regarding bone metabolism has never been performed.
Objective
To investigate bone health in young adults with WS.
Design
Cross-sectional study.
Settings
Endocrinology and Metabolic Diseases and Medical Genetic Units.
Patients
29 WS young adults and 29 age- and sex-matched controls.
Main outcome measures
In all subjects, calcium, phosphorus, bone alkaline phosphatase (bALP), parathyroid hormone (PTH), 25-hydroxyvitamin D (25OHVitD), osteocalcin (OC), carboxyterminal cross-linking telopeptide of type I collagen (CTX), 24-h urinary calcium and phosphorus, femoral-neck (FN) and lumbar-spine (LS) BMD and vertebral fractures (VFx) were assessed. In 19 patients, serum fibroblast growth factor-23 (FGF23) levels were measured.
Results
WS patients showed lower phosphorus (3.1 ± 0.7 vs 3.8 ± 0.5 mg/dL,
p
= 0.0001) and TmP/GFR (0.81 ± 0.32 vs 1.06 ± 0.25 mmol/L,
p
= 0.001), and an increased prevalence (
p
= 0.005) of hypophosphoremia (34.5 vs 3.4%) and reduced TmP/GFR (37.9 vs 3.4%). Moreover, bALP (26.3 ± 8.5 vs 35.0 ± 8.0 U/L), PTH (24.5 ± 12.6 vs 33.7 ± 10.8 pg/mL), OC (19.4 ± 5.3 vs 24.5 ± 8.7 ng/mL), and FN-BMD (− 0.51 ± 0.32 vs 0.36 ± 0.32) were significantly lower (
p |
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ISSN: | 1720-8386 0391-4097 1720-8386 |
DOI: | 10.1007/s40618-018-0924-y |