Reduction of large soft-tissue Gaucheromas with substrate reduction therapy

被引：7

作者：

Mahajan, Neha ^{[1
]}

Warren, Mikako ^{[2
]}

Yano, Shoji ^{[3
]}

机构：

[1] Univ Southern Calif, Dept Pediat, LAC USC Med Ctr, Los Angeles, CA 90089 USA

[2] Univ Southern Calif, Childrens Hosp Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USA

[3] Univ Southern Calif, Dept Pediat, LAC USC Med Ctr, Genet Div, 1801 Marengo St,Gen Lab Bldg,Rm 1G-24, Los Angeles, CA 90033 USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2020年 / 43卷 / 02期

关键词：

enzyme replacement therapy (ERT); Gaucher disease; Gaucheroma; substrate reduction therapy (SRT);

D O I：

10.1002/jimd.12188

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Soft-tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30-year-old patient with Gaucher disease type 3, receiving beta-glucocerebrosidase enzyme replacement therapy (ERT), who presented with slowly enlarging masses infiltrated with Gaucher cells along her back. Substrate reduction therapy introduced in addition to ERT, resulted in significant reduction of the large masses.

引用

页码：375 / 376

页数：2

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