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

Autor: Stagi S; Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy. stefano.stagi@yahoo.it., Manoni C; Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy., Scalini P; Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy., Chiarelli F; Department of Paediatrics, University of Chieti, Chieti, Italy., Verrotti A; Department of Paediatrics, University of L'Aquila, L'Aquila, Italy., Cecchi C; Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy., Lapi E; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy., Giglio S; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy., Romano S; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy., de Martino M; Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, viale Pieraccini 24, Florence, Italy.
Jazyk: angličtina
Zdroj: Hormones (Athens, Greece) [Hormones (Athens)] 2016 Jul; Vol. 15 (3), pp. 404-412.
DOI: 10.14310/horm.2002.1683
Abstrakt: Objective: To evaluate bone mineral status and metabolism in a cohort of patients with Williams-Beuren syndrome (WBS).
Patients: Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WBS were cross-sectionally evaluated and compared with two age-, sex-, and body-size-matched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22.3±5.42 years) healthy controls.
Measurements: We evaluated ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels, and urinary deoxypyridinoline concentrations. We also calculated the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) z-scores.
Results: WBS patients showed a significantly reduced AD-SoS z-score (p <0.001) and BTT z-score (p <0.001) compared with the controls. This finding persisted when we divided the sample into paediatric and adult patients. WBS patients also had significantly higher ionised (p <0.001) and total calcium (p <0.001) levels as well as higher PTH levels (p <0.001) compared with the controls. Furthermore, WBS children and adolescents had significantly lower serum osteocalcin levels (p <0.001) and urinary deoxypyridinoline concentrations (p <0.001) than controls.
Conclusions: WBS subjects exhibit a significant reduction in bone mineral status and impaired bone metabolism. These findings point to the need for close monitoring of WBS patients.
Databáze: MEDLINE
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