Mashiba Chikara, Shioya Akihiro, Kumagai Motona, Yoshida Mitsuteru, Yamada Sohsuke
Department of Pathology, Kanazawa Medical University Hospital, Uchinada, JPN.
Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Uchinada, JPN.
Cureus. 2024 Apr 1;16(4):e57418. doi: 10.7759/cureus.57418. eCollection 2024 Apr.
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 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.
一名70岁女性，被诊断为线粒体糖尿病（MDM），此前线粒体DNA存在3316G>A点突变，出现尿路感染、足部糖尿病坏疽伴革兰氏阴性菌血症，随后出现严重黄疸，直接胆红素血清水平升高。症状出现两个月后死亡。尸检时，在充血的双侧肺中观察到多个菌血症诱导的出血性梗死灶，而胆汁淤积性肝脏未发现明显的肉眼可见的胆管扩张。显微镜检查结果特征性地显示肝小叶胆小管中有许多胆栓，没有任何严重休克肝的证据。最后，由于革兰氏阴性菌衍生的内毒素和炎性细胞因子显著升高，我们将其明确诊断为脓毒症相关性胆汁淤积。我们认为，我们MDM病例中的这些独特肝脏特征可能是揭示其神秘病因的新线索之一。
