Arakawa Chikako, Endo Ayumi, Kohira Ryutaro, Fujita Yukihiko, Fuchigami Tatsuo, Mugishima Hideo, Ohtake Akira, Murayama Kei, Mori Masato, Miyata Rie, Hatai Yoshiho
Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
Brain Dev. 2012 Feb;34(2):115-7. doi: 10.1016/j.braindev.2011.03.002. Epub 2011 Mar 26.
We report on a 4-year-old boy who died from influenza encephalopathy. The clinical course and microscopic findings of the autopsied liver were compatible with Reye's syndrome. We examined the mitochondrial respiratory chain function by blue native polyacrylamide gel electrophoresis (BN-PAGE), western blotting, and respiratory chain enzyme activity assays. The activity of liver respiratory chain complex (CO) I was markedly decreased (7.2% of the respective control activity); whereas, the other respiratory chain complex activities were substantially normal (CO II, 57.9%; CO III, 122.3%; CO IV, 161.0%). The activities of CO I-IV in fibroblasts were normal (CO I, 82.0%; CO II, 83.1%; CO III, 72.9%; CO IV, 97.3%). The patient was diagnosed with liver-specific complex I deficiency. This inborn disorder may have contributed to the fatal outcome. We propose that relying only on fibroblast respiratory chain complex activities may lead to the misdiagnosis of liver-specific complex I deficiency.
我们报告了一名死于流感脑病的4岁男孩。尸检肝脏的临床病程和微观发现与瑞氏综合征相符。我们通过蓝色天然聚丙烯酰胺凝胶电泳（BN-PAGE）、蛋白质印迹法和呼吸链酶活性测定来检测线粒体呼吸链功能。肝脏呼吸链复合体（CO）I的活性显著降低（为各自对照活性的7.2%）；而其他呼吸链复合体活性基本正常（CO II，57.9%；CO III，122.3%；CO IV，161.0%）。成纤维细胞中CO I-IV的活性正常（CO I，82.0%；CO II，83.1%；CO III，72.9%；CO IV，97.3%）。该患者被诊断为肝脏特异性复合体I缺乏症。这种先天性疾病可能导致了致命的后果。我们提出仅依靠成纤维细胞呼吸链复合体活性可能会导致肝脏特异性复合体I缺乏症的误诊。
