Gaucher Disease and Bone Manifestations

被引：39

作者：

Marcucci, Gemma ^{[1
]}

Zimran, Ari ^{[2
]}

Bembi, Bruno ^{[3
]}

Kanis, John ^{[4
]}

Reginster, Jean-Yves ^{[5
]}

Rizzoli, Rene ^{[6
,7
]}

Cooper, Cyrus ^{[8
,9
]}

Brandi, Maria Luisa ^{[1
]}

机构：

[1] Univ Florence, Dept Surg & Translat Med, Bone Metab Dis Unit, I-50139 Florence, Italy

[2] Hebrew Univ Jerusalem, Hadassah Med Sch, Shaare Zedek Med Ctr, Gaucher Clin, IL-91010 Jerusalem, Israel

[3] Univ Hosp Santa Maria Misericordia, Reg Coordinat Ctr Rare Dis, Udine, Italy

[4] Univ Sheffield, Sch Med, Ctr Metab Bone Dis, Sheffield, S Yorkshire, England

[5] Univ Liege, Dept Publ Hlth & Hlth Econ, Liege, Belgium

[6] Univ Hosp Geneva, Serv Bone Dis, Geneva, Switzerland

[7] Fac Med, Geneva, Switzerland

[8] Univ Southampton, MRC Lifecourse Epidemiol Unit, Southampton, Hants, England

[9] Univ Oxford, NIHR Musculoskeletal Biomed Res Unit, Oxford, England

来源：

CALCIFIED TISSUE INTERNATIONAL | 2014年 / 95卷 / 06期

关键词：

Gaucher disease; Bone; Biomarkers; Enzyme replacement therapy; Substrate reduction therapy; Osteonecrosis; ENZYME REPLACEMENT THERAPY; LYSOSOMAL STORAGE DISEASES; VELAGLUCERASE ALPHA; SKELETAL MANIFESTATIONS; MARROW RESPONSES; MINERAL DENSITY; TYPE-1; GLUCOCEREBROSIDASE; IMIGLUCERASE; MIGLUSTAT;

D O I：

10.1007/s00223-014-9923-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：477 / 494

页数：18

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