Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11)

Maurizio Genuardi, Stefano Stagi, Elisabetta Lapi, Eleonora Gambineri, Cristina Manoni, Gloria Colarusso, Camilla Conti, Francesco Chiarelli, Maurizio De Martino, Chiara Azzari

Risultato della ricerca: Contributo in rivistaArticolo in rivista

17 Citazioni (Scopus)

Abstract

Although hypoparathyroidism with hypocalcaemia is one of the most frequent clinical features of monoallelic microdeletion of chromosome 22q11 (22q11DS), bone mass and metabolism have not yet been assessed in these patients. DESIGN: This study aimed to evaluate bone mass and metabolism in a cohort of patients, both children and adults, with 22q11DS. METHODS: In twenty-eight patients with 22q11DS (median age 12.5, range 6.1-42.8 years), serum levels of ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin and bone-specific alkaline phosphatase (BSAP), and urinary deoxypyridinoline concentrations were evaluated. In these patients, bone mineral density (BMD) was evaluated by dual-energy X-ray absorptiometry (DXA) examination, and volumetric BMD (bone mineral apparent density (BMAD)) was calculated. The data obtained from paediatric and adult patients were compared with two age-, sex- and body size-matched healthy subject control groups. RESULTS: Patients with 22q11DS showed a reduced BMAD Z-score compared with controls (P<0.001). These patients also had significantly lower ionised (P<0.001) and total calcium (P<0.05) levels as well as lower PTH levels (P<0.05), compared with the controls. In particular, children and young patients with 22q11DS had significantly lower serum osteocalcin levels (P<0.001), BSAP levels (P<0.001) and urinary deoxypyridinoline concentrations (P<0.001) than controls. These results were not confirmed in adults. Finally, patients with hypoparathyroidism and/or hypocalcaemia at the time of the study showed significantly lower ionised (P<0.001) and total calcium levels (P<0.001), PTH levels (P<0.05), BSAP levels (P<0.001), osteocalcin levels (P<0.001) and urinary deoxypyridinoline concentrations (P<0.001), compared with patients without hypoparathyroidism and/or hypocalcaemia. Nonetheless, the BMAD Z-score did not show substantial differences between these two groups. CONCLUSIONS: Subjects with 22q11DS have a significant reduction in bone mass that appears to be more severe in adults who have already attained peak bone mass than in children who are still growing. Therefore, we suggest a close monitoring of bone mass and metabolism in 22q11DS patients.
Lingua originaleEnglish
pagine (da-a)329-337
Numero di pagine9
RivistaEuropean Journal of Endocrinology
Volume163
DOI
Stato di pubblicazionePubblicato - 2010

Keywords

  • BODY-COMPOSITION
  • CALCIUM INTAKE
  • CHILDREN
  • DELETION SYNDROME
  • GROWTH
  • HORMONE GH TREATMENT
  • MINERAL DENSITY
  • PARATHYROID-HORMONE
  • SPECTRUM
  • X-RAY ABSORPTIOMETRY

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