Knisely A S, Harford J B, Klausner R D, Taylor S R
Program in Developmental Pathology, Brown University, Providence, Rhode Island.
Am J Pathol. 1989 Feb;134(2):439-45.
The authors have investigated the hypothesis that neonatal hemochromatosis (NH), a generally fatal disease of infancy, is due to abnormalities in cellular response to ambient levels of iron. The clinical and necropsy findings in two infants with NH, the results of evaluations for iron-storage disease in their first-degree relatives, and the results of the authors' studies of ferritin and transferrin-receptor (TfR) synthesis in NH and normal fibroblasts are presented. No differences between cultured skin fibroblasts from a normal infant and similar cells from the two infants with NH were seen with respect to TfR and ferritin synthesis rates or their modulation by iron. NH and adult idiopathic hemochromatosis (AH) share a pattern of siderosis in which epithelial and mesenchymal elements contain large quantities of stainable iron, while reticuloendothelial elements contain almost none. Although no familial correlation between NH and AH has been established, and none appeared to exist in these two families, the authors' results parallel those of previous studies of various cell types from persons with AH. The abnormalities in cellular iron handling, undefined at present, that are associated with the phenotype common to NH and AH do not appear primarily to involve the regulation by iron of rates of TfR and ferritin synthesis.
新生儿血色素沉着症（NH），一种通常致命的婴儿疾病，是由于细胞对环境中铁水平的反应异常所致。文中呈现了两名患NH婴儿的临床及尸检结果、对其一级亲属铁储存疾病的评估结果，以及作者对NH和成纤维细胞及正常成纤维细胞中铁蛋白和转铁蛋白受体（TfR）合成的研究结果。在正常婴儿的培养皮肤成纤维细胞与两名患NH婴儿的类似细胞之间，就TfR和铁蛋白合成速率或其受铁的调节方面，未观察到差异。NH与成人特发性血色素沉着症（AH）具有一种铁沉积模式，即上皮和间充质成分含有大量可染色铁，而网状内皮成分几乎不含铁。尽管尚未确立NH与AH之间的家族相关性，且在这两个家族中似乎也不存在这种相关性，但作者的结果与先前对AH患者各种细胞类型的研究结果相似。目前尚不清楚的、与NH和AH共有的表型相关的细胞铁处理异常，似乎并非主要涉及铁对TfR和铁蛋白合成速率的调节。
