Doyle Adam, Rusli Ferry, Bhathal Prithi
Department of Gastroenterology and Hepatology, Monash Health, Melbourne, Victoria, Australia.
Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia.
BMJ Case Rep. 2015 May 14;2015:bcr2014207541. doi: 10.1136/bcr-2014-207541.
We present a case of a 20-year-old man referred to our service with iron overload and mildly deranged liver biochemistry. Although liver histopathology was consistent with haemochromatosis, iron studies were not consistent with this diagnosis. Serum ceruloplasmin levels were undetectable, leading to a diagnosis of aceruloplasminaemia. Unlike other iron overload disorders, neurological complications are a unique feature of this illness, and often irreversible, once established. The patient was treated with iron chelation prior to the onset of neurological injury, and experienced progressive normalisation of his ferritin and liver biochemistry. This is one of the youngest diagnosed cases in the published literature and, crucially, was a rare case of diagnosis and treatment prior to the onset of neurological sequelae. This is presented alongside a review of previously published cases of aceruloplasminaemia, including responses to iron chelation therapy.
我们报告了一例20岁男性患者，因铁过载和轻度肝功能生化指标异常转诊至我院。尽管肝脏组织病理学符合血色素沉着症，但铁代谢检查结果与该诊断不符。血清铜蓝蛋白水平检测不到，从而诊断为无铜蓝蛋白血症。与其他铁过载疾病不同，神经并发症是这种疾病的独特特征，一旦出现往往不可逆转。该患者在神经损伤发生前接受了铁螯合治疗，其铁蛋白和肝功能生化指标逐渐恢复正常。这是已发表文献中诊断出的最年轻病例之一，关键的是，这是神经后遗症出现之前罕见的诊断和治疗案例。本文还对之前发表的无铜蓝蛋白血症病例进行了综述，包括对铁螯合治疗的反应。
