国际医药卫生导报2014，Vol.20Issue(15)：2283-2286,4.DOI:10.3760/cma.j.issn.1007-1245.2014.15.023
戈谢病3例临床分析及文献复习
Clinical analysis on 3 cases of Gaucher disease and literature review
唐家彦 1薛湘萍 2刘玉玲 1付四毛1
作者信息
- 1. 528400 中山市博爱医院儿科
- 2. 528400 中山市陈星海医院儿科
- 折叠
摘要
Abstract
Objective To investigate the clinical characteristics,diagnosis and treatment of Gaucher disease.Methods To summarize the clinical data of 3 cases of Gaucher disease with clinical manifestations,pathological features of bone marrow.Results The common clinical manifestation of 3 cases was growth retardation,splenomegaly,hepatomegaly,thrombocytopenia and anemia,bone marrow cytology examination showed typical Gaucher cells.Case 1 had mental retardation and osteoporosis.Case 2 with convulsions and other symptoms of the nervous system and bone pain,pathological examination showed typical Gaucher cells of spleen.In cases 1 and 3,peripheral white blood cells of glucocerebrosidase activity were significantly decreased (＜ 15％of the normal value).Case 1 was given sufficient enzyme replacement therapy after diagnosis,hepatosplenomegaly,clinical manifestation was relieved after 6 months,after 6 years of treatment it gradually appeared bone damage because of the lack of adequate medication.In case 2 with spleen excision and symptomatic treatment,but symptoms of nervous system was still progressive.Case 3 didn't start treatment yet.Conclusion For children with hepatosplenomegaly,we should pay attention to the possibility of Gaucher disease.Bone marrow cytology and enzymology check has diagnostic significance.In the treatment of symptoms,enzyme replacement therapy may be the best choice.关键词
戈谢病/肝脾肿大Key words
Gaucher disease/ Hepatosplenomegaly引用本文复制引用
唐家彦,薛湘萍,刘玉玲,付四毛..戈谢病3例临床分析及文献复习[J].国际医药卫生导报,2014,20(15):2283-2286,4.
