1型戈谢病意外累及胃肠道的病例报告：酒石酸 eliglustat 治疗与酶替代疗法的比较
Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.
作者信息
Kim Yoo-Mi, Shin Dong Hoon, Park Su Bum, Cheon Chong Kun, Yoo Han-Wook
机构信息
Department of Pediatrics, College of Medicine, Pusan National University Children's Hospital, Yangsan, Korea.
Department of Pathology, College of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea.
出版信息
BMC Med Genet. 2017 May 15;18(1):55. doi: 10.1186/s12881-017-0403-x.
BACKGROUND
Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).
CASE PRESENTATION
Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both. Improvement in the gastroduodenal infiltration and reduced chitotriosidase levels were observed in one who switched to eliglustat tartrate for 1 year, whereas the other one who maintained ERT showed no improvement of chitotriosidase level and persistent duodenal lesions.
CONCLUSION
This shows that eliglustat might be an effective treatment for Gaucher disease patients having lesions resistant to ERT.
背景
戈谢病累及胃肠道非常罕见，且似乎对酶替代疗法（ERT）无反应。
病例介绍
在此，我们描述了一对同卵双胞胎、已行脾切除术、非神经病变型戈谢病患者，他们接受长期ERT治疗9年，因胃十二指肠黏膜戈谢细胞浸润而主诉上腹部不适。两人均发现GBA基因罕见的复合杂合突变（p.Arg48Trp和p.Arg257Gln）。其中一名患者改用酒石酸艾立布林1年，胃十二指肠浸润情况改善，壳三糖苷酶水平降低，而另一名维持ERT治疗的患者壳三糖苷酶水平未改善，十二指肠病变持续存在。
结论
这表明，对于对ERT耐药的戈谢病患者，艾立布林可能是一种有效的治疗方法。
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