A Revised Classification of Primary Iron Overload Syndromes  

作　　者：Yasuaki Tatsumi Motoyoshi Yano Shinya Wakusawa Hiroaki Miyajima Tetsuya Ishikawa Shinsaku Imashuku Atsuko Takano Wataru Nihei Ayako Kato Koichi Kato Hisao Hayashi Kentaro Yoshioka Kazuhiko Hayashi 

机构地区：[1]Department of Medical Biochemistry,Faculty of Pharmaceutical Sciences,Toho University,Funabashi,Japan [2]Department of Gastroenterology,Yokkaichi Municipal Hospital,Yokkaichi,Japan [3]Department of Medical Technology,Shubun University,Ichinomiya,Japan [4]Department of Medicine and Neurology,Tenryu Kohseikai Clinic,Hamamatsu,Japan [5]Department of Gastroenterology and Hepatology,Nagoya University Graduate School of Medicine,Nagoya,Japan [6]Department of Laboratory Medicine,Uji-Tokushukai Medical Center,Uji,Japan [7]Department of Medicine,Saiseikai Takaoka Hospital,Takaoka,Japan [8]Department of Medicine,Aichi-Gakuin University School of Pharmacy,Nagoya,Japan [9]Department of Gastroenterology,FNPS Meijo Hospital,Nagoya,Japan

出　　处：《Journal of Clinical and Translational Hepatology》2024年第4期346-356,共11页临床与转化肝病杂志（英文版）

摘　　要：Background and Aims:The clinical introduction of hepcidin25(Hep25)has led to a more detailed understanding of its relationship with ferroportin(FP)and divalent metal transporter1 in primary iron overload syndromes(PIOSs).In 2012,we proposed a classification of PIOSs based on the Hep25/FP system,which consists of prehepatic aceruloplasminemia,hepatic hemochromatosis(HC),and posthepatic FP disease(FP-D).However,in consideration of accumulated evidence on PIOSs,we aimed to renew the classification.Methods:We reviewed the 2012 classification and retrospectively renewed it according to new information on PIOSs.Results:Iron-loading anemia was included in PIOSs as a prehepatic form because of the newly discovered erythroferrone-induced suppression of Hep25,and the state of traditional FP-D was remodeled as the BIOIRON proposal.The key molecules responsible for prehepatic PIOSs are low transferrin saturation in aceruloplasminemia and increased erythroferrone production by erythroblasts in iron-loading anemia.Hepatic PIOSs comprise four genotypes of HC,in each of which the synthesis of Hep25 is inappropriately reduced in the liver.Hepatic Hep25 synthesis is adequate in posthepatic PIOSs;however,two mutant FP molecules may resist Hep25 differently,resulting in SLC40A1-HC and FP-D,respectively.PIOS phenotypes are diagnosed using laboratory tests,including circulating Hep25,followed by suitable treatments.Direct sequencing of the candidate genes may be outsourced to gene centers when needed.Laboratory kits for the prevalent mutations,such as C282Y,may be the first choice for a genetic analysis of HC in Caucasians.Conclusions:The revised classification may be useful worldwide.

关 键 词：ETHNICITY FERROPORTIN HEMOCHROMATOSIS Hepcidin25 Iron overload syndrome 

分 类 号：R575[医药卫生—消化系统]