Jouanolle Anne-Marie, Douabin-Gicquel Véronique, Halimi Chantal, Loréal Olivier, Fergelot Patricia, Delacour Thierry, de Lajarte-Thirouard Anne-Sophie, Turlin Bruno, Le Gall Jean-Yves, Cadet Estelle, Rochette Jacques, David Véronique, Brissot Pierre
Laboratoire de Génétique Moléculaire and UMR-CNRS 6061, Hôpital Pontchaillou, CHU de Rennes, Rennes, France.
J Hepatol. 2003 Aug;39(2):286-9. doi: 10.1016/s0168-8278(03)00148-x.
We report a family affected with dominant autosomal iron overload related to a new mutation in ferroportin 1, a transmembrane protein involved in the export of iron from duodenal enterocytes and likely from macrophages. The originality of this family is represented by the nature of the mutation consisting in the replacement of glycine 490 with aspartate. Clinicians should be aware of this novel iron overload entity, which corresponds to a particular phenotypic expression (high serum ferritin values contrasting with relatively low transferring saturation, and important Kupffer cell iron deposition as compared to hepatocytic iron excess) with poor tolerance of venesection therapy and a dominant pattern of inheritance. Given this dominant transmission, the mixed Causasian-Asian origin of our Asian proband leaves open the issue of the ethnic origin of the new mutation.
我们报告了一个与铁转运蛋白1新突变相关的常染色体显性遗传性铁过载家族，铁转运蛋白1是一种跨膜蛋白，参与十二指肠肠上皮细胞以及可能从巨噬细胞中输出铁。该家族的独特之处在于其突变性质，即第490位甘氨酸被天冬氨酸替代。临床医生应了解这种新型铁过载实体，它具有特定的表型表达（高血清铁蛋白值与相对较低的转铁蛋白饱和度形成对比，与肝细胞铁过量相比，库普弗细胞铁沉积明显），对放血疗法耐受性差且呈显性遗传模式。鉴于这种显性遗传，我们亚洲先证者的高加索 - 亚洲混合血统使得新突变的种族起源问题尚无定论。
