期刊论文详细信息
Frontiers in Pediatrics
Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease
Pediatrics
Weiyan Zheng1  Jianfang Zhu2  Yuxiao Sun2  Chunlin Wang2 
[1] Department of Hematology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China;Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China;
关键词: gaucher disease;    glucocerebrosidase;    multidisciplinary collaboration;    splenomegaly;    case report;   
DOI  :  10.3389/fped.2023.1057574
 received in 2022-09-29, accepted in 2023-03-16,  发布年份 2023
来源: Frontiers
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【 摘 要 】

Gaucher disease (GD) is an inherited lysosomal storage disease caused by mutations in the glucocerebrosidase gene. The decrease of glucocerebrosidase activity in lysosomes results in the accumulation of its substrate glucocerebroside in the lysosomes of macrophages in organs such as the liver, spleen, bones, lungs, brain and eyes, and the formation of typical storage cells, namely “Gaucher cells”, leading to lesions in the affected tissues and organs. Hepatosplenomegaly, bone pain, cytopenia, neurological symptoms, and other systemic manifestations are common in clinical practice. Most pediatric patients have severe symptoms. Early diagnosis and treatment are crucial to improve the curative effect and prognosis. However, due to the low incidence of this disease, multi-system involvement in patients, and diverse clinical manifestations, multidisciplinary teamwork is needed for comprehensive evaluation, diagnosis and treatment. In this study, we reported 2 cases of different types of GD who were diagnosed, treated and followed up by multidisciplinary collaboration in infancy.

【 授权许可】

Unknown   
© 2023 Zhu, Sun, Zheng and Wang.

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