1例成人1型戈谢病合并颞部肠出血。

Ito Junitsu, Saito Takafumi, Numakura Chikahiko, Iwaba Akiko, Sugahara Shinpei, Ishii Rika, Sato Chikako, Haga Hiroaki, Okumoto Kazuo, Nishise Yuko, Watanabe Hisayoshi, Ida Hiroyuki, Hayasaka Kiyoshi, Togashi Hitoshi, Kawata Sumio, Ueno Yoshiyuki

Department of Gastroenterology, Faculty of Medicine, Yamagata University, Yamagata ; Department of Biochemistry and Molecular Biology, Graduate School of Medical Science, Yamagata University, Yamagata.

Case Rep Gastroenterol. 2013 Aug 16;7(2):340-6. doi: 10.1159/000354725. eCollection 2013.

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.

一名有突发性直肠出血病史的21岁男性被转诊至我院。检查发现血小板减少和肝脾肿大。肝脏活检标本显示在肝门管区有戈谢细胞。进一步检查发现白细胞β-葡萄糖苷酶活性水平较低，且葡萄糖脑苷脂酶基因存在常见突变L444P/D409H。我们诊断该患者为1型戈谢病。他接受了酶替代疗法。6个月内，血小板减少和肝脾肿大分别以约50%和20%的速率得到改善。该病例提示，我们必须重视成人戈谢病，将其作为不明原因血小板减少的鉴别诊断。