TY - CHAP
T1 - Bone health in classic galactosemia
T2 - Systematic review and meta-analysis
AU - van Erven, Britt
AU - Welling, Lindsey
AU - van Calcar, Sandra C.
AU - Doulgeraki, Artemis
AU - Eyskens, François
AU - Gribben, Joanna
AU - Treacy, Eileen P.
AU - Vos, Rein
AU - Waisbren, Susan E.
AU - Rubio-Gozalbo, M. Estela
AU - Bosch, Annet M.
N1 - Publisher Copyright:
© SSIEM and Springer-Verlag Berlin Heidelberg 2017.
PY - 2017
Y1 - 2017
N2 - Introduction: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. Low BMD was defined as a Z-score ≤−2 standard deviations (SD). The secondary objective was to evaluate other indicators of bone status through a descriptive analysis. Methods: Systematic search strategies were developed by an experienced clinical librarian. Selection of relevant manuscripts, risk of bias assessment, and data extraction were performed independently by two investigators. Results: Four studies were included in the meta-analysis. BMD Z-scores in children and adults with CG measured at the lumbar spine (LBMD; 4 studies; n = 112), total hip (HBMD; 2 studies; n = 58), and femoral neck (FBMD; 2 studies; n = 73) were assessed. Mean BMD Z-scores in the CG population were LBMD −0.70 (95% CI: −0.88, −0.52); HBMD −0.89 (95% CI: −1.14, −0.64); and FBMD −0.63 (95% CI −1.29, 0.02). Results from studies included in the descriptive analysis (n = 7) show that vitamin D levels were frequently in the low reference range, whereas serum calcium levels were within reference range. Conclusion: The mean BMD Z-score in the CG population is −0.7, which is lower than in the general population, though still within two SD of the reference mean of zero. This indicates that bone health is mildly affected in CG and that more patients, compared to the general population, are at risk for a BMD Z-score ≤−2 SD. In conclusion, clinicians should ensure appropriate preventive and therapeutic measures for CG patients.
AB - Introduction: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. Low BMD was defined as a Z-score ≤−2 standard deviations (SD). The secondary objective was to evaluate other indicators of bone status through a descriptive analysis. Methods: Systematic search strategies were developed by an experienced clinical librarian. Selection of relevant manuscripts, risk of bias assessment, and data extraction were performed independently by two investigators. Results: Four studies were included in the meta-analysis. BMD Z-scores in children and adults with CG measured at the lumbar spine (LBMD; 4 studies; n = 112), total hip (HBMD; 2 studies; n = 58), and femoral neck (FBMD; 2 studies; n = 73) were assessed. Mean BMD Z-scores in the CG population were LBMD −0.70 (95% CI: −0.88, −0.52); HBMD −0.89 (95% CI: −1.14, −0.64); and FBMD −0.63 (95% CI −1.29, 0.02). Results from studies included in the descriptive analysis (n = 7) show that vitamin D levels were frequently in the low reference range, whereas serum calcium levels were within reference range. Conclusion: The mean BMD Z-score in the CG population is −0.7, which is lower than in the general population, though still within two SD of the reference mean of zero. This indicates that bone health is mildly affected in CG and that more patients, compared to the general population, are at risk for a BMD Z-score ≤−2 SD. In conclusion, clinicians should ensure appropriate preventive and therapeutic measures for CG patients.
KW - Bone mass
KW - Bone mineral density
KW - Bone turnover markers
KW - Classic galactosemia
KW - DXA
KW - GALT deficiency
KW - Vitamin D
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U2 - 10.1007/8904_2016_28
DO - 10.1007/8904_2016_28
M3 - Chapter
AN - SCOPUS:85017464308
T3 - JIMD Reports
SP - 87
EP - 96
BT - JIMD Reports
PB - Springer
ER -