Gaucher's disease in an asymptomatic 72-year-old.
Gaucher's disease in an asymptomatic 72-year-old.
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一名无症状的 72 岁老人患有戈谢病。
DOI：
10.1001/jama.1977.03270500081038
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发表时间：
1977
期刊：
影响因子：
--
通讯作者：
E. Beutler
中科院分区：
文献类型：
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作者：
E. Beutler
不言而喻的是，随着更好的诊断方法的发展，疾病的临床范围也会扩大。戈谢病也是如此。这种疾病通常与大量肝脾肿大、全血细胞减少和骨病变相关，现在可以通过相对简单的生化测量来检测：白细胞酸性β-葡萄糖苷酶的活性大大降低。 1 最近，在一项家庭研究过程中，我们对患有戈谢氏病的孕妇的年迈父母的白细胞中的 β-葡萄糖苷酶活性进行了测定。令我们惊讶的是，该妇女的母亲（此处报告的病例）获得的结果在这种疾病的特征范围内。经骨髓检查确诊。病例报告 患者为72岁犹太妇女。 51岁时诊断出乳腺癌，接受根治性乳房切除术；目前还没有复发的证据。心肌梗塞
IT IS a truism that as better diagnostic methods develop, the clinical spectrum of a disease broadens. So it is in the case of Gaucher's disease. Classically associated with massive hepatosplenomegaly, pancytopenias, and bone lesions, this disease can now be detected by a relatively simple biochemical measurement: the activity of leukocyte acid β-glucosidase is greatly decreased. 1 Recently, in the course of a family study, we carried out assays of β-glucosidase activity in leukocytes of the elderly parents of a pregnant woman with Gaucher's disease. To our surprise, the results obtained for this woman's mother (the case reported here) were within the range characteristic of this disorder. The diagnosis was confirmed by bone marrow examination. Report of a Case The patient is a 72-year-old Jewish woman. Breast cancer, diagnosed at the age of 51 years, was treated with radical mastectomy; there has been no evidence of recurrence. A myocardial infarction