A case of adult type 1 Gaucher disease complicated by temporal intestinal hemorrhage.
A case of adult type 1 Gaucher disease complicated by temporal intestinal hemorrhage.
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DOI：
10.1159/000354725
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发表时间：
2013
影响因子：
0.6
通讯作者：
Ueno Y
中科院分区：
文献类型：
--
作者：
Ito J;Saito T;Numakura C;Iwaba A;Sugahara S;Ishii R;Sato C;Haga H;Okumoto K;Nishise Y;Watanabe H;Ida H;Hayasaka K;Togashi H;Kawata S;Ueno Y
一位21岁男性因直肠突发性出血被转介至我院。检查发现血小板减少和肝脾肿大。肝活检标本显示Glisson囊内有高谢氏细胞。进一步的研究显示白细胞β-葡萄糖苷酶活性低，葡萄糖脑苷酶基因L444P/D409H常见突变。我们诊断患者为戈谢病1型。他接受了酶替代疗法。在6个月内，血小板减少症和肝脾肿大分别以约50%和20%的速度得到改善。本病例提示我们必须重视成人戈谢病作为隐源性血小板减少症的鉴别诊断。
A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase activity and common mutations of the glucocerebrosidase gene, L444P/D409H. We diagnosed the patient with Gaucher disease type 1. He underwent enzyme replacement therapy. Thrombocytopenia and hepatosplenomegaly improved at a rate of approximately 50 and 20%, respectively, within 6 months. This case suggests that we must pay attention to adult Gaucher disease as a differential diagnosis for cryptogenic thrombocytopenia.