1889年Von Recklinghaasen首先记载了血色病(Hemochromatosis)这个名称,其后渐有报导,直到1935年才认为本病是铁代谢障碍的结果。目前认为特发性血色病,是由于铁吸收调节缺陷,实质性铁过荷,最后导致脏器损害及功能障碍的一种遗传性疾病,有明显的家族史。肝脏、胰腺铁沉积是最明显,其次是内分泌腺、皮肤及心肌等部位,临床具有皮肤色素沉着,肝脏肿大,糖尿病及心力衰竭四联症。近年来,随着诊断技术的进展及肝脏活检的应用,使得很多病人得到早期确诊。今将特发性血色病有关问题综述如下。 In 1889 Von Recklinghaasen first recorded the name of Hemochromatosis, and later it was reported that it was not until 1935 that the disease was considered to be the result of an iron metabolism disorder. Currently considered idiopathic hemochromatosis, due to defects in iron absorption regulation, substantial iron overload, and finally lead to organ damage and dysfunction of a genetic disease, a clear family history. Liver, pancreatic iron deposition is the most obvious, followed by the endocrine glands, skin and myocardium and other parts of the clinical skin pigmentation, liver enlargement, diabetes and heart failure quadruple disease. In recent years, with the progress of diagnostic techniques and the application of liver biopsy, many patients get early diagnosis. The relevant issues of idiopathic hemochromatosis are summarized as follows.