Gushurst T P, Triest W E
Department of Pathology, Cabell Huntington Hospital, West Virginia.
W V Med J. 1990 Mar;86(3):91-5.
Primary hemochromatosis is a common genetic disorder that results in inappropriate iron absorption and storage, with progressive damage to target organs. Hepatic cirrhosis and hepatocellular carcinoma are sequelae of hemochromatosis which are potentially preventable. The diagnosis may be suspected prior to target organ damage by appropriate screening tests, and is confirmed by liver biopsy. Three cases of hemochromatosis in the precirrhotic stage of the disease are presented. The pathophysiology, clinical and laboratory features and management are discussed. The high gene frequency in the general population warrants routine screening tests in asymptomatic healthy young adults. Phlebotomy is the indicated treatment for all stages of the disease.
原发性血色素沉着症是一种常见的遗传性疾病,会导致铁吸收和储存不当,对靶器官造成渐进性损害。肝硬化和肝细胞癌是血色素沉着症的后遗症,有可能预防。通过适当的筛查试验,在靶器官损害之前可能怀疑诊断,并通过肝活检确诊。本文介绍了3例处于疾病肝硬化前期的血色素沉着症病例。讨论了其病理生理学、临床和实验室特征及治疗方法。普通人群中该基因的高频率使得对无症状健康年轻人进行常规筛查试验很有必要。静脉放血是该病各阶段的指定治疗方法。