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 < 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. Conclusions: Adult WS patients have reduced TmP/GFR, inappropriately normal FGF23 levels and an uncoupled bone turnover with low femoral BMD.

Bone involvement and mineral metabolism in Williams’ syndrome / 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. - In: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. - ISSN 0391-4097. - (2018). [Epub ahead of print] [10.1007/s40618-018-0924-y]

Bone involvement and mineral metabolism in Williams’ syndrome

S. Palmieri;E. Cairoli;V. Morelli;M.E. Lunati;A.M. Barbieri;A. Spada;I. Chiodini;C. Eller-Vainicher
2018

Abstract

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 < 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. Conclusions: Adult WS patients have reduced TmP/GFR, inappropriately normal FGF23 levels and an uncoupled bone turnover with low femoral BMD.
bone; FGF23; phosphorus; Williams’ syndrome; endocrinology, diabetes and metabolism; endocrinology
Settore MED/13 - Endocrinologia
20-lug-2018
Article (author)
File in questo prodotto:
File Dimensione Formato  
BoneInvolvementMineralMetabolism_EpubAhead.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 777.16 kB
Formato Adobe PDF
777.16 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
final paper JENI revision 1_Iacopo(1).pdf

embargo fino al 15/10/2019

Tipologia: Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione 138.4 kB
Formato Adobe PDF
138.4 kB Adobe PDF Visualizza/Apri
tables JEI.pdf

embargo fino al 15/10/2019

Tipologia: Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione 85.72 kB
Formato Adobe PDF
85.72 kB Adobe PDF Visualizza/Apri
Figure1.pdf

embargo fino al 15/10/2019

Tipologia: Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione 20.96 kB
Formato Adobe PDF
20.96 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/585094
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 3
  • ???jsp.display-item.citation.isi??? 2
social impact