Britt van Erven1, Lindsey Welling2, Sandra C van Calcar3, Artemis Doulgeraki4, François Eyskens5,6, Joanna Gribben7, Eileen P Treacy8,9, Rein Vos10,11, Susan E Waisbren12, M Estela Rubio-Gozalbo13, Annet M Bosch2. 1. Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, PO Box 5800, 6202, Maastricht, The Netherlands. 2. Department of Pediatrics, Academic Medical Center, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands. 3. Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, Oregon, USA. 4. Department of Bone and Mineral Metabolism, Institute of Child Health, Agia Sophia Children's Hospital, Athens, Greece. 5. Department of Metabolic Disorders in Children, Antwerp University Hospital UZA, Edegem, Belgium. 6. Center of Inherited Metabolic Diseases, Metabolic Lab PCMA, Wilrijk, Belgium. 7. Nutrition & Dietetics Department, Guy's & St. Thomas' NHS Foundation Trust, London, UK. 8. Mater Misericordiae University Hospital, Trinity College Dublin, Dublin, Ireland. 9. University College Dublin, Dublin, Ireland. 10. Department of Methodology and Statistics, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands. 11. CAPHRI School for Public Health and Primary Care, Maastricht University Medical Center, Maastricht, The Netherlands. 12. Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. 13. Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, PO Box 5800, 6202, Maastricht, The Netherlands. estela.rubio@mumc.nl.
Abstract
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.
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.
Entities:
Keywords:
Bone mass; Bone mineral density; Bone turnover markers; Classic galactosemia; DXA; GALT deficiency; Vitamin D
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