Thwaites Phoebe A, Woods Marion L
Department of Victorian Liver Transplant Unit, Austin Health, Heidelberg, Victoria, Australia.
Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
BMJ Case Rep. 2017 Jan 4;2017:bcr2016218185. doi: 10.1136/bcr-2016-218185.
A 60-year-old woman was admitted with sepsis, relative bradycardia, CT evidence of numerous small liver abscesses and 'skin bronzing' consistent with hereditary haemochromatosis (HH). Yersinia enterocolitica O:9 infection was confirmed by serology specimens taken 10 days apart. Iron overload was detected, and homozygous C282Y gene mutation confirmed HH. Liver biopsy revealed grade IV siderosis with micronodular cirrhosis. Haemochromatosis is a common, inherited disorder leading to iron overload that can produce end-organ damage from excess iron deposition. Haemochromatosis diagnosis allowed aggressive medical management with phlebotomy achieving normalisation of iron stores. Screening for complications of cirrhosis was started that included hepatoma surveillance. Iron overload states are known to increase patient susceptibility to infections caused by lower virulence bacteria lacking sophisticated iron metabolism pathways, for example, Yersinia enterocolitica Although these serious disseminated infections are rare, they may serve as markers for occult iron overload and should prompt haemochromatosis screening.
一名60岁女性因败血症、相对性心动过缓入院,CT显示有多个小肝脓肿以及与遗传性血色素沉着症(HH)相符的“皮肤青铜色”。通过间隔10天采集的血清学标本确诊为小肠结肠炎耶尔森菌O:9感染。检测到铁过载,纯合子C282Y基因突变确诊为HH。肝活检显示IV级铁沉积伴小结节性肝硬化。血色素沉着症是一种常见的遗传性疾病,可导致铁过载,过量的铁沉积会造成终末器官损害。血色素沉着症的诊断使得通过放血进行积极的药物治疗,实现了铁储存的正常化。开始对肝硬化并发症进行筛查,包括肝癌监测。已知铁过载状态会增加患者对由缺乏复杂铁代谢途径的低毒力细菌引起的感染的易感性,例如小肠结肠炎耶尔森菌。虽然这些严重的播散性感染很少见,但它们可能是隐匿性铁过载的标志物,应促使进行血色素沉着症筛查。