换一批
换一批摘要线粒体神经胃肠脑肌病（MNGIE）是一种罕见的常染色体隐性遗传性线粒体疾病，临床上以胃肠道和神经系统受累为主要特征，目前国内报道较少。本文报道1例以慢性腹泻为主要表现的MNGIE患者，旨在提高对MNGIE的认识。
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abstractsMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive hereditary mitochondrial disease, which is mainly characterized by gastrointestinal and neurological system involvement. This article reports a rare case of MNGIE which presented as chronic diarrhea. The purpose is to improve the understanding of MNGIE.
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关键词
线粒体神经胃肠脑肌病胸苷磷酸化酶腹泻常染色体隐性遗传病Mitochondrial neurogastrointestinal encephalomyopathyThymidine phosphorylaseDiarrheaAutosomal recessive hereditary disease
栏目名称
病例报告
DOI
10.3760/cma.j.cn101480-20210602-00041
发布时间
2025-02-25
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