Gaucher disease and SARS-CoV-2 infection: A case report

ANNALS OF CLINICAL AND ANALYTICAL MEDICINE(2023)

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摘要
Gaucher disease is an autosomal recessive genetic disorder, caused by deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of glucosylceramide in macrophages. It causes splenomegaly, hepatomegaly, cytopenia, and bone lesions associated with infiltration of bone marrow, spleen, and liver by Gaucher cells. A new coronavirus named severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) causing severe acute respiratory disease, emerged in China in December 2019. Most of the infected children appear to be asymptomatic or have a milder clinical course in contrast with adults. Herein, we report a pediatric case of Gaucher disease with SARS-CoV-2 infection.
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关键词
Gaucher, SARS-CoV-2, Enzyme Therapy
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