The research progress of surgical aspects for Gaucher disease

Zhang Bojian, Qiao Haiquan

Journal of Abdominal Surgery ›› 2019, Vol. 32 ›› Issue (2) : 144-147.

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Journal of Abdominal Surgery ›› 2019, Vol. 32 ›› Issue (2) : 144-147. DOI: 10.3969/j.issn.1003-5591.2019.02.016

The research progress of surgical aspects for Gaucher disease

  • Zhang Bojian, Qiao Haiquan
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Abstract

Gaucher disease is a rare autosomal recessive genetic disease caused by the deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. Gaucher cells infiltrate the bone marrow, spleen, and liver, resulting in cytopenias, splenomegaly, hepatomegaly, and bone marrow lesions. It has various clinical manifestations, complex metabolic processes, and is closely related to malignant tumors, osteoporosis and Parkinson's disease. Disease-specific treatment includes intravenous enzyme replacement therapy (ERT) and substrate reduction therapy(SRT). Surgical treatment is very significant in the field of Gaucher disease in our country. The paper mainly aims to review the research progress of surgical aspeds for Gaucher disease.

Key words

Gaucher disease / Lysosomal storage disease / Glucosylceramide / Enzyme replacement therapy / Surgical treatment

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Zhang Bojian, Qiao Haiquan. The research progress of surgical aspects for Gaucher disease[J]. Journal of Abdominal Surgery, 2019, 32(2): 144-147 https://doi.org/10.3969/j.issn.1003-5591.2019.02.016

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