Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease
| Autor: | C. E. M. Hollak, Mario Maas, Johanna E. M. Groener, Johannes M. F. G. Aerts, V.E. Everts, J.A.K. Blokland, L. van Dussen, Ineke D. C. Jansen, Nathalie Bravenboer, Paul Lips |
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| Přispěvatelé: | Other departments, Cell Biology and Histology, Medical Biochemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Movement Sciences, Radiology and Nuclear Medicine, Amsterdam Cardiovascular Sciences, Endocrinology, Research Institute MOVE, Internal medicine, Clinical chemistry, MOVE Research Institute, Orale Celbiologie (ORM, ACTA), Faculteit der Geneeskunde, Parodontologie (OUD, ACTA), Oral Cell Biology |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male medicine.medical_specialty Bone disease Adolescent Endocrinology Diabetes and Metabolism Clinical Biochemistry Osteocalcin Context (language use) Biochemistry Severity of Illness Index Bone resorption Collagen Type I Bone remodeling Central nervous system disease Endocrinology N-terminal telopeptide SDG 3 - Good Health and Well-being Osteogenesis Internal medicine Medicine Humans Bone Resorption Aged Retrospective Studies Gaucher Disease biology business.industry Biochemistry (medical) Middle Aged medicine.disease enzyme replacement therapy skeletal involvement aminohydroxypropylidene bisphosphonate biochemical markers mineral density in-vitro macrophage glucocerebrosidase chitotriosidase deficiency Procollagen peptidase biology.protein Disease Progression Female business Peptides Biomarkers Procollagen |
| Zdroj: | Journal of clinical endocrinology and metabolism, 96(7), 2194-2205. The Endocrine Society Journal of Clinical Endocrinology and Metabolism, 96(7), 2194-2205. Oxford University Press van Dussen, L, Lips, P T A M, Everts, V E, Bravenboer, N, Jansen, I D C, Groener, J E M, Maas, M, Blokland, J A K, Aerts, J M F G & Hollak, C E M 2011, ' Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease ', Journal of Clinical Endocrinology and Metabolism, vol. 96, no. 7, pp. 2194-2205 . https://doi.org/10.1210/jc.2011-0162 Journal of Clinical Endocrinology and Metabolism, 96(7), 2194-2205. The Endocrine Society Journal of Clinical Endocrinology and Metabolism, 96(7), 2194-2205 van Dussen, L, Lips, P, Everts, V E, Bravenboer, N, Jansen, I D C, Groener, J E M, Maas, M, Blokland, J A K, Aerts, J M F G & Hollak, C E M 2011, ' Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease ', Journal of Clinical Endocrinology and Metabolism, vol. 96, no. 7, pp. 2194-2205 . https://doi.org/10.1210/jc.2011-0162 |
| ISSN: | 0021-972X |
| Popis: | Context: Gaucher disease (GD) is a lysosomal storage disorder characterized by abundant presence of macrophages. Bone complications and low bone density are believed to arise from enhanced bone resorption mediated through macrophage-derived factors. Objective: The objective of the study was to investigate the relationship between bone turnover and bone complications in GD. Design: This was a retrospective cohort study and review of the literature. Patients: Forty adult type I GD patients were included in the study. Outcome Measures: Levels of the bone-resorption marker, type 1 collagen C-terminal telopeptide, and two bone-formation markers, N-terminal propeptide of type 1 procollagen and osteocalcin, were investigated in relation to clinical bone disease, measures of overall disease severity, and imaging data representing bone marrow infiltration. Results: Osteocalcin was decreased in 50% of our patients (median 0.35 nmol/liter, normal 0.4-4.0), indicating a decrease of bone formation. Type 1 collagen C-terminal telopeptide and N-terminal propeptide of type 1 procollagen were within the normal range for most patients. Osteocalcin concentration was negatively correlated to measures of overall disease severity and positively correlated with imaging data (correlation coefficient 0.423; P = 0.025), suggesting a relation with disease severity. A review of the literature revealed variable outcomes on bone resorption markers but more consistent abnormalities in bone formation markers. Two of three reports conclude that bone-formation parameters increase in response to enzyme therapy, but none describes an effect on bone-resorption markers. Conclusions: In contrast to earlier hypotheses, we propose that in GD patients, primarily a decrease in bone formation causes an imbalance in bone remodeling. (J Clin Endocrinol Metab 96: 2194-2205, 2011) |
| Databáze: | OpenAIRE |
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