Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
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DOI：
10.1016/j.bcmd.2004.12.002
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发表时间：
2005-03-01
影响因子：
2.3
通讯作者：
Beutler, E
中科院分区：
文献类型：
--
作者：
Sham, RL;Phatak, PD;Beutler, E
遗传性血色素沉着症是一种常见的铁代谢紊乱，最常与HFE基因突变有关。遗传性血色素沉着症可能是由其他不太常见的基因突变，包括那些在ferroportin基因。而与HFE突变相关的遗传性血色病是一种常染色体隐性遗传疾病，基本上所有与膜铁转运蛋白突变相关的遗传性血色病病例均遵循常染色体显性遗传模式，并且大多数病例值得注意的是缺乏升高的转铁蛋白饱和度和枯否细胞中存在铁沉积。本报告描述了一个家族的临床和实验室特征与遗传性血色病与以前未认识的ferroportin突变（Cys326Ser）。三代人的家庭被描述。该家族的疾病以发病年龄小、转铁蛋白饱和度升高和肝细胞铁沉积为特征。不同的分子和临床特征反映了这种疾病的异质性。2005年爱思唯尔公司All rights reserved.
Hereditary hemochromatosis is a common disorder of iron metabolism most frequently associated with mutations in the HFE gene. Hereditary hemochromatosis may be caused by other less common genetic mutations including those in the ferroportin gene. Whereas hereditary hemochromatosis associated with HFE mutations is an autosomal recessive disorder, essentially all cases of hereditary hemochromatosis associated with ferroportin mutations follow an autosomal dominant pattern of inheritance, and most cases are notable for the lack of an elevated transferrin saturation and presence of iron deposition in Kupffer cells. This report describes the clinical and laboratory features of a family with hereditary hemochromatosis associated with a previously unrecognized ferroportin mutation (Cys326Ser). Three generations of the family are described. The disease in this family is notable for young age at onset, elevated transferrin saturation values, and hepatocyte iron deposition. The distinct molecular and clinical features reflect the heterogeneous nature of this disease. 2005 Elsevier Inc. All rights reserved.