Bone Marker Alterations in Patients with Type 1 Gaucher Disease

Ciana, Giovanni; Martini, Cristina; Leopaldi, A.; Tamaro, G.; Katouzian, Fourogh; Ronfani, Luca; Bembi, Bruno

doi:10.1007/s00223-001-2072-0

Cited by 42 publications

(27 citation statements)

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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: 82%

“…According to this finding, Stowens DW et al [47] reported a decrease in bone resorption on seven patients who underwent bone biopsies. 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].…”

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%

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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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Section: Bone Metabolism and Biochemical Markers In Gdmentioning

confidence: 82%

Section: Bone Metabolism and Biochemical Markers In Gdmentioning

confidence: 98%

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Gaucher Disease and Bone Manifestations

et al. 2014

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“…The most accurate but least available tool for the bones is quantitative chemical shift imaging (QCSI). 38 There are several bone and skeletal assessment scores, [39][40][41][42] in addition to actual bone densitometry 42,43 and bone marker 42 evaluations. Echocardiography 44 is recommended for follow-up of pulmonary hypertension.…”

Section: Enzyme Replacement Therapy (Ert): the Early Yearsmentioning

confidence: 99%

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

Elstein¹

2009

BTT

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Abstract:Most patients who suffer from symptomatic Gaucher disease will benefit from enzyme replacement therapy (ERT) with imiglucerase. The safety profile is excellent, only a small percentage of those exposed developing antibodies; similarly, very few patients require pre-medication for allergic reactions. Within 3 to 5 years of imiglucerase therapy, best documented at doses of 30 to 60 units/kg/infusion, hepatosplenomegaly can be expected to be reduced so that the liver volume will be maintained at 1 to 1.5 times normal (30% to 40% reduction from advent of ERT) and spleen volume to 2 to 8 times normal (50% to 60% reduction from advent of ERT). For anemic and thrombocytopenic patients, with 2 to 5 years of imiglucerase, hemoglobin levels are expected to be 11 g/dL for women and children and 12 g/dL for men; and platelet counts in patients with an intact spleen, depending on the baseline value, should approximately be doubled. Bone crises and bone pain but not irreversible skeletal damage will improve in most patients. Nonetheless, some features and some symptomatic patients apparently do not respond equally well and/or perhaps inadequately. The benefit for patients with the neuronopathic forms is primarily in improved visceral and hematological signs and symptoms. There are still several unresolved issues, the high per-unit cost being an important one, which have spurred the development of biosimilar enzymes as well as chaperone therapies currently in clinical trials.

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“…Five of these concerned skeletal complications, four considered the relationship between skeletal and visceral symptoms, including the impact of splenectomy, and the remainder considered skeletal symptoms in isolation, pulmonary symptoms, growth retardation or pregnancy in Gaucher's disease. 10,74,77,[136][137][138][139][140][141][142][143][144][145][146][147] The review concentrates on the papers that report multiple clinical characteristics. The other papers are used to inform our understanding of the relationship between the different clinical characteristics; such as splenectomy and bone disease.…”

Section: Quantity and Quality Of Research Availablementioning

confidence: 99%

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gauchers disease: a systematic review

2007

Clinical Governance: An International Journal

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Bone Marker Alterations in Patients with Type 1 Gaucher Disease

Cited by 42 publications

References 9 publications

Gaucher Disease and Bone Manifestations

Gaucher Disease and Bone Manifestations

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gauchers disease: a systematic review

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Bone Marker Alterations in Patients with Type 1 Gaucher Disease

Cited by 42 publications

References 9 publications

Gaucher Disease and Bone Manifestations

Gaucher Disease and Bone Manifestations

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gauchers disease: a systematic review

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The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gauchers disease: a systematic review