Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease

Dussen, Laura van; Lips, Paul; Everts, Vincent; Bravenboer, Nathalie; Jansen, Ineke D. C.; Groener, J.E.M.; Maas, Mario; Blokland, J. A. K.; Aerts, Johannes M. F. G.; Hollak, Carla E. M.

doi:10.1210/jc.2011-0162

Cited by 53 publications

(45 citation statements)

References 46 publications

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“…Bone turnover can be measured with specific biochemical markers [60] for enzyme activities, the release of various structural components of bone, and proteins involved in the processes of bone formation (Table 5). Over the years, most of these parameters have been tested in patients with GD [33][34][35][36][37][38][39][40]. Urinary total hydroxyproline levels are used to identify osteoclastic hyperactivity.…”

Section: Biomarkers For Bone Damagementioning

confidence: 99%

Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice

et al. 2014

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Gaucher disease is a rare autosomal recessive disorder of glycosphingolipid metabolism resulting from deficient activity of the lysosomal enzyme beta-glucocerebrosidase that causes accumulation of glucosylceramide in tissue macrophage with damage to hematological, visceral, and skeletal organ systems. Severity and progression may vary independently among these domains, necessitating individualized therapy. Skeletal involvement is highly prevalent and often associated with intense pain, impaired mobility, and reduced quality of life. Enzyme replacement therapy improves parameters in all affected domains, but skeletal involvement requires longer treatment and higher dosages to obtain significant results. Despite numerous papers on bone complications in patients with Gaucher disease, there are no specific indications on how to assess properly bone involvement in such condition, the frequency of assessment, the use of markers for osteoblast and osteoclast activity, or the administration of bisphosphonates or other symptomatic drugs in adult and pediatric patients. Starting from a re-evaluation of cases with bone involvement, we have identified some common errors in the diagnostic approach and management. The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in patients with Gaucher disease type 1.

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Section: Biomarkers For Bone Damagementioning

confidence: 99%

Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice

et al. 2014

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“…Markers of bone formation in treatment-naïve patients appeared to be normal or decreased, whereas markers of bone degradation were mainly normal or increased [45,46,48]. According to this finding, Stowens DW et al [47] reported a decrease in bone resorption on seven patients who underwent bone biopsies.…”

Section: Bone Metabolism and Biochemical Markers In Gdmentioning

confidence: 92%

“…A study measured serum osteocalcin (OC), a marker of bone formation, and type I collagen C-terminal telopeptide (ICTP), a marker of bone resorption, in 16 patients with type 1 GD and in 29 agematched controls, and the results indicated a significant decrease of both OC and ICTP values in patients with GD compared to the unaffected controls [46]. Recently, Van Dussen et al found that OC was decreased in 50 % of 40 type 1 GD patients with no significant change in ICTP and N-terminal propeptide of type 1 procollagen (PINP) and concluded that imbalances in bone turnover result primarily from a decrease in bone formation [48]. In addition, OC concentration was negatively correlated to measures of overall disease severity and positively correlated with imaging data, suggesting a relation with disease severity [48].…”

Section: Bone Metabolism and Biochemical Markers In Gdmentioning

confidence: 98%

“…A few studies [45][46][47][48][49] have evaluated various markers of bone turnover in treatment-naïve patients, or on ERT, and also in patients switching from ERT to substrate reduction therapy (SRT) ( Table 1).…”

Section: Bone Metabolism and Biochemical Markers In Gdmentioning

confidence: 99%

“…Recently, Van Dussen et al found that OC was decreased in 50 % of 40 type 1 GD patients with no significant change in ICTP and N-terminal propeptide of type 1 procollagen (PINP) and concluded that imbalances in bone turnover result primarily from a decrease in bone formation [48]. In addition, OC concentration was negatively correlated to measures of overall disease severity and positively correlated with imaging data, suggesting a relation with disease severity [48]. Furthermore, a recent study in GBA gene-deficient mice demonstrated the predominance of altered osteoblastic function in GD [49].…”

Section: Bone Metabolism and Biochemical Markers In Gdmentioning

confidence: 99%

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Gaucher Disease and Bone Manifestations

et al. 2014

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Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Gaucher disease affects multiple organs, among which is the skeleton. Bone involvement occurs frequently in Gaucher disease, and is one of its most debilitating features, reducing the quality of life of patients. Bone status is an important consideration for treatment to ameliorate symptoms and reduce the risk of irreversible complications. We have conducted a systematic review of all the various aspects of Gaucher disease, focusing on different skeletal manifestations, pathophysiology of bone alterations, clinical symptoms, and current diagnostic and therapeutic approaches.

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Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models

et al. 2016

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Gaucher disease is caused by inherited deficiency of lysosomal glucocerebrosidase. Proteome analysis of laser‐dissected splenic Gaucher cells revealed increased amounts of glycoprotein nonmetastatic melanoma protein B (gpNMB). Plasma gpNMB was also elevated, correlating with chitotriosidase and CCL18, which are established markers for human Gaucher cells. In Gaucher mice, gpNMB is also produced by Gaucher cells. Correction of glucocerebrosidase deficiency in mice by gene transfer or pharmacological substrate reduction reverses gpNMB abnormalities. In conclusion, gpNMB acts as a marker for glucosylceramide‐laden macrophages in man and mouse and gpNMB should be considered as candidate biomarker for Gaucher disease in treatment monitoring.

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Markers of Bone Turnover in Gaucher Disease: Modeling the Evolution of Bone Disease

Abstract: In contrast to earlier hypotheses, we propose that in GD patients, primarily a decrease in bone formation causes an imbalance in bone remodeling.

Cited by 53 publications

References 46 publications

Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice

Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice

Gaucher Disease and Bone Manifestations

Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models

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