Bone involvement and mineral metabolism in Williams’ syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-07-20

AUTHORS

S. Palmieri, M. F. Bedeschi, E. Cairoli, V. Morelli, M. E. Lunati, A. Scillitani, V. Carnevale, F. Lalatta, A. M. Barbieri, E. Orsi, A. Spada, I. Chiodini, C. Eller-Vainicher

ABSTRACT

ContextThe 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.ObjectiveTo investigate bone health in young adults with WS.DesignCross-sectional study.SettingsEndocrinology and Metabolic Diseases and Medical Genetic Units.Patients29 WS young adults and 29 age- and sex-matched controls.Main outcome measuresIn 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.ResultsWS 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 < 0.05), while CTX significantly higher (401.2 ± 169.3 vs 322.3 ± 122.4 pg/mL, p < 0.05). Serum and urinary calcium and 25OHVitD levels, LS-BMD and VFx prevalence were comparable. No cases of hypercalcemia and suppressed FGF23 were documented. Patients with low vs normal phosphorus and low vs normal TmP/GFR showed comparable FGF23 levels. FGF23 did not correlate with phosphorus and TmP/GFR values.ConclusionsAdult WS patients have reduced TmP/GFR, inappropriately normal FGF23 levels and an uncoupled bone turnover with low femoral BMD. More... »

PAGES

337-344

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s40618-018-0924-y

DOI

http://dx.doi.org/10.1007/s40618-018-0924-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1105707556

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30030744


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