Clinicopathological study of Japanese patients with genetic iron overload syndromes
Clinicopathological study of Japanese patients with genetic iron overload syndromes
复制标题
DOI：
10.1111/j.1440-1827.2012.02848.x
复制
发表时间：
2012-09-01
影响因子：
2.2
通讯作者：
Wakusawa, Shinya
中科院分区：
文献类型：
--
作者：
Hattori, Ai;Miyajima, Hiroaki;Wakusawa, Shinya
除了血色素沉着症外，浆细胞球蛋白血症和膜铁转运蛋白病可能并发铁诱导的多器官损害。因此，临床病理特征应在更广泛的遗传性铁紊乱进行评估。这项研究包括16名患有遗传性铁过载综合征的日本患者。4例患者的相关基因为CP，1例为HAMP，3例为HJV，5例为TFR 2，3例为SLC 40 A1。在CP、TFR 2或HAMP基因型患者中未观察到表型分离。三名HJV基因型患者中有两名表现为典型的血色病，而不是青少年型。具有SLC 40 A1基因型的患者受到轻度铁超负荷（ferroportin A）或严重铁超负荷（ferroportin B）的影响。转铁蛋白饱和度异常低aceruloplaminemia患者。所有患者，除了那些与ferroportin疾病，显示低血清hepcidin-25水平。肝脏病理学显示表型特异性变化;在血浆铜蓝蛋白血症中孤立的实质铁负荷，门静脉周围纤维化与铁转运蛋白B的实质和枯否细胞中的重铁过载相关，以及在血色素沉着症中实质主导的铁负荷肝硬化。与此相反，糖尿病发生在所有的血浆堆蛋白血症，血色素沉着症，和ferroportin疾病B的表型。总之，日本遗传性铁超载综合征患者的部分临床病理特征。
In addition to hemochromatosis, aceruloplasminemia and ferroportin disease may be complicated by iron-induced multiple organ damage. Therefore, clinicopathological features should be evaluated in a wider range of genetic iron disorders. This study included 16 Japanese patients with genetic iron overload syndromes. The responsible genes were CP in four, HAMP in one, HJV in three, TFR2 in five, and SLC40A1 in three patients. No phenotype dissociation was observed in patients with the CP, TFR2, or HAMP genotypes. Two of the three patients with the HJV genotype displayed classic hemochromatosis instead of the juvenile type. Patients with the SLC40A1 genotype were affected by mild iron overload (ferroportin A) or severe iron overload (ferroportin B). Transferrin saturation was unusually low in aceruloplasminemia patients. All patients, except those with ferroportin disease, displayed low serum hepcidin-25 levels. Liver pathology showed phenotype-specific changes; isolated parenchymal iron loading in aceruloplasminemia, periportal fibrosis associated with heavy iron overload in both parenchymal and Kupffer cells of ferroportin B, and parenchyma-dominant iron-loading cirrhosis in hemochromatosis. In contrast, diabetes occurred in all phenotypes of aceruloplasminemia, hemochromatosis, and ferroportin disease B. In conclusion, clinicopathological features were partially characterized in Japanese patients with genetic iron overload syndromes.