PDF(Pubmed)
Abstract：
A 70-year-old female, diagnosed with mitochondrial diabetes mellitus (MDM) showing previously a point mutation at mitochondrial DNA 3316G>A, noticed urinary tract infection and diabetic gangrene of the foot with Gram-negative Bacteroides fragilis bacteremia, followed by aggressive jaundice with high serum level of direct bilirubin. She died two months after the symptom onset. At autopsy, multiple foci of bacteremia-induced hemorrhagic infarction were observed in the congestive bilateral lungs, whereas the cholestatic liver revealed no overt gross cholangiectasis. Microscopic findings characteristically showed many bile thrombi in the biliary canaliculi of hepatic lobules without any evidence of severe shock liver. Finally, we diagnosed it exclusively as sepsis-associated cholestasis due to the marked elevation of Gram-negative bacteria-derived endotoxins and inflammatory cytokines. We propose that these unique liver features in our MDM case might be one of the new clues to unveil its enigmatic etiology.
摘要：
一位70岁的女性,诊断为线粒体糖尿病（MDM），以前显示线粒体DNA3316G>A的点突变，注意到尿路感染和足部糖尿病坏疽与革兰氏阴性脆弱拟杆菌菌血症，其次是侵袭性黄疸，血清直接胆红素水平高。她在症状发作两个月后死亡。尸检时,在充血性双肺中观察到多个菌血症引起的出血性梗死灶，而胆汁淤积性肝未显示明显的总胆管扩张。显微镜检查特征性发现肝小叶胆管中许多胆汁血栓，没有任何严重休克的证据。最后,由于革兰氏阴性菌源性内毒素和炎性细胞因子的显著升高,我们诊断为脓毒症相关胆汁淤积.我们认为，MDM病例中这些独特的肝脏特征可能是揭示其神秘病因的新线索之一。
