一个家族中两名兄弟姐妹患1型和3型戈谢病：2例罕见病例报告
Type 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports.
作者信息
Modak Dolanchampa, Roy Sasmit, Nath Uttam, Guha S K
机构信息
Assistant Professor, Department of Tropical Medicine, School of Tropical Medicine , Kolkata, India .
Post Graduate Trainee, Department of Tropical Medicine, School of Tropical Medicine , Kolkata, India .
出版信息
J Clin Diagn Res. 2015 Feb;9(2):OD01-2. doi: 10.7860/JCDR/2015/8493.5507. Epub 2015 Feb 1.
Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile subacute neuropathic variant of adult Gaucher disease in two of three siblings in a family.
戈谢病（GD）是一种常染色体隐性疾病，其特征是缺乏酸性β-葡萄糖苷酶（葡糖脑苷脂酶），导致葡糖神经酰胺在不同器官中蓄积。该病在阿什肯纳兹犹太人中较为常见，但在印度较为罕见。在印度，约有500例病例被确诊。我们报告了一个家庭中三个兄弟姐妹中的两个所患的两例有趣病例，分别为1型非神经病变型和3型成人戈谢病青少年亚急性神经病变型。
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