Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptoms
Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptoms
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线粒体呼吸链复合物I缺乏导致顽固性胃肠道症状
作者：
Kuranobu H;Murakami J;Kuranobu N;Okamoto K;Murayama K;Kanzaki S
我们报告一例13个月大的女孩出现频繁呕吐、难治性腹泻、高乳酸血症和肝功能障碍。尽管这些症状对治疗有耐药性，但含有中链甘油三酯的肠内营养配方可减轻体重减轻、呕吐和腹泻。结肠黏膜线粒体呼吸链（MRC）复合物免疫染色证实MRC复合物I缺乏的诊断。这个病例表明，这种疾病应该包括在鉴别诊断高乳酸血症和顽固性，隐源性胃肠道症状。此外，还应在免疫染色或电镜下对受累胃肠道器官的黏膜进行MRC复合物分析。
We report the case of a 13‐month‐old girl with frequent vomiting, intractable diarrhea, hyperlactatemia, and liver dysfunction. Although the symptoms were treatment resistant, enteral nutrition formula containing medium‐chain triglycerides reduced the weight loss, vomiting, and diarrhea. Immunostaining of mitochondrial respiratory chain (MRC) complexes of the colonic mucosa confirmed the diagnosis of MRC complex I deficiency. This case shows that this disease should be included in the differential diagnosis of hyperlactatemia and intractable, cryptogenic gastrointestinal symptoms. In addition, the mucosa of the affected gastrointestinal organ should be analyzed on immunostaining or electron microscopy for MRC complexes.