Biochemical Markers of Bone Turnover as Tools in the Evaluation of Skeletal Involvement in Patients with Type 1 Gaucher Disease

Drugan, Cristina; Jebeleanu, Gheorghe; Grigorescu-Sido, Paula; Caillaud, Catherine; Crăciun, Alexandra

doi:10.1006/bcmd.2001.0479

Cited by 43 publications

(29 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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%

See 1 more Smart Citation

Gaucher Disease and Bone Manifestations

et al. 2014

View full text Add to dashboard Cite

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.

show abstract

Section: Bone Metabolism and Biochemical Markers In Gdmentioning

confidence: 92%

“…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%

Gaucher Disease and Bone Manifestations

et al. 2014

View full text Add to dashboard Cite

show abstract

“…Different markers of bone turnover have been evaluated in treatment-naïve patients and on ERT [22][23][24][25][26][27][28][29][30][31][32][33][34][35], recently also evaluating changes in patients switching from ERT to SRT [36]. The results of these studies are summarized in Tab.…”

Section: Metabolic Changes Of Bone Disease In Gdmentioning

confidence: 99%

An overview on bone manifestations in Gaucher disease

Mikosch

Hughes

2010

Wien Med Wochenschr

View full text Add to dashboard Cite

Gaucher disease (GD), the most prevalent lysosomal storage disorder, affects multiple organ systems. Patients with non-neuronopathic (type 1) GD, the most common form of GD, present with hepatomegaly, splenomegaly, anemia, bleeding tendencies, thrombocytopenia, skeletal pathologies, growth retardation, and, in severe cases, pulmonary disease. The bone manifestations include bone infarcts, avascular bone necrosis, lytic lesions, osteosclerosis, fractures due to osteopenia or osteoporosis, and rarely acute osteomyelitis. Bone pain of varying intensity, fractures, and progressive joint collapses may cause impaired mobility and performances status, and increased morbidity. Enzyme replacement therapy and substrate reduction therapy have demonstrated to have beneficial effects on bone pain, bone crises, and the extent of osteoporosis. This review article gives an overview of the clinical appearance of bone pathology in GD, the possible pathophysiological mechanisms, diagnostic approaches, and the therapeutic effects of enzyme replacement therapy, substrate reduction therapy, and bone specific therapies as evaluated in current literature.

show abstract

“…Failure to achieve optimal bone mass is likely to affect peak bone mass and may contribute to osteoporosis and increase the risk of pathological fractures and joint collapse during adolescence (30,31). Further studies (32)(33)(34)(35) have confirmed these findings in GD-patients showing decreased BMD at different sites (lumbar spine, neck, trochanter and distal radius). Patients with lower BMD had 5-fold increase in risk to experience a fracture (36).…”

Section: Osteoporosismentioning

confidence: 83%

Gaucher disease: the role of the specialist on metabolic bone diseases

Masi

Brandi

2015

ccmbm

View full text Add to dashboard Cite

SummaryAccording to European legislation, a disease can be considered rare or "orphan" when it affects less than 1 subject of 2000 (1). Often these diseases affecting the pediatric age, are complex diseases and chronically debilitating and for this motive need the intervention of multidisciplinary skills specific. Among the rare disease as affecting the skeleton more than 400 are characterized by dysplastic changes of the skeleton (2). Alongside the disorders affecting the skeleton primitively, many systemic diseases can have a bone involvement. Among these, the Gaucher disease (GD), an heterogeneous lysosomal storage determined by hereditary enzyme deficiency of β-glucosidase. Patients with this disease have skeletal disorders of varying severity (Erlenmeyer flask deformity, lytic lesions and osteonecrosis, pathological fractures) that affects both the bone marrow, both mineralized bone with progressive damage of the tissue. The bone disease is the most debilitating of GD and can have a significant impact on the quality of life of patients. Thorough evaluations by monitoring biochemical markers of bone turnover and instrumental, with a quantitative and qualitative evaluation of the bone, are of fundamental importance to intervene early so they can prevent complications irreversible.

show abstract

Biochemical Markers of Bone Turnover as Tools in the Evaluation of Skeletal Involvement in Patients with Type 1 Gaucher Disease

Cited by 43 publications

References 21 publications

Gaucher Disease and Bone Manifestations

Gaucher Disease and Bone Manifestations

An overview on bone manifestations in Gaucher disease

Gaucher disease: the role of the specialist on metabolic bone diseases

Contact Info

Product

Resources

About