Department of Gastroenterological Surgery, Yokohama City University School of Medicine Graduate School of Medicine, Yokohama, Kanagawa, Japan
Department of Gastroenterological Surgery, Yokohama City University School of Medicine Graduate School of Medicine, Yokohama, Kanagawa, Japan.
BMJ Case Rep. 2021 Feb 5;14(2):e238653. doi: 10.1136/bcr-2020-238653.
We herein report a woman who was suffering from type 1 diabetes and hearing impairment and whose mother had mitochondrial disease. Abdominal ultrasound identified a hepatic tumour, and a further examination led to the diagnosis of rectal cancer with synchronous multiple liver metastases. A genetic test led to the diagnosis of mitochondrial disease with a mitochondrial gene 3243A>G mutation. After neoadjuvant chemotherapy, we performed hepatectomy and low anterior resection in one stage. Hepatic vascular exclusion was not performed in order to prevent damage to hepatocytes due to liver ischaemia, and Ringer's lactate solution was not used to prevent lactic acidosis. The postoperative course was uneventful. Only one other case involving hepatectomy being performed in a patient with mitochondrial disease has been reported. Considering the extreme rarity of such cases and the importance of perioperative management, we report this case here.
我们在此报告一例患有 1 型糖尿病和听力障碍的女性，其母亲患有线粒体疾病。腹部超声发现肝脏肿瘤，进一步检查诊断为直肠癌伴同步多发肝转移。基因检测诊断为线粒体疾病，存在线粒体基因 3243A>G 突变。新辅助化疗后，我们一期行肝切除术和低位前切除术。为防止因肝脏缺血导致肝细胞损伤，未行肝血管阻断，也未使用林格氏乳酸溶液以防酸中毒。术后过程顺利。仅另报告过一例线粒体疾病患者行肝切除术。考虑到这种情况极其罕见，且围手术期管理非常重要，故在此报告该病例。
