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hepatology_part4

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Trao đổi chất của gan bệnh Loại 4 haemochromatosis - Ferroportin bệnh Ferroportin liên quan đến sắt quá tải (còn gọi là Ferroportin bệnh) lần đầu tiên được công nhận bởi Pietrangelo (1999) người đã mô tả một gia đình người Ý với một NST thường chi phối không-HFE haemochromatosis. | Metabolic Liver Diseases Type 4 haemochromatosis - Ferroportin disease Ferroportin-associated iron overload also called Ferroportin disease was first recognised by Pietrangelo 1999 who described an Italian family with an autosomal dominant non-HFE haemochromatosis. Many family members had iron overload resulting in liver fibrosis diabetes impotence and cardiac arrhythmias. In addition to autosomal dominant inheritance features distinguishing this from HFE haemochromatosis included early iron accumulation in reticuloendothelial cells and a marked increase in ferritin earlier than what is seen in transferrin saturation Pietrangelo 1999 Rivard 2003 Mon-tosi 2001 Wallace 2004 Fleming 2001 . Several patients showed a reduced tolerance to phlebotomy and became anaemic despite elevated ferritin Pietrangelo 1999 Jouanolle 2003 . In 2001 this form of non-HFE haemochromatosis was linked to mutations of fer-roportin Montosi 2001 that had just been identified as the basolateral iron transporter Abboud 2000 Donovan 2000 . Since that time numerous mutations in the gene have been implicated in patients from diverse ethnic origins with previously unexplained haemochromatosis. Iron overload disease due to ferroportin mutations has been defined as type 4 haemochromatosis or Ferroportin Disease for review see Pietrangelo 2004 . The iron export is tightly regulated because both iron deficiency and iron excess are harmful. The main regulator of this mechanism is the peptide hepcidin which binds to ferroportin induces its internalization and degradation thereby reducing iron efflux Nemeth 2004 . Increase in iron absorption may be caused either by hepcidin deficiency or its ineffective interaction with ferroportin. All recent studies have shown that hepcidin deficiency appears to be the common characteristic of most types of genetic mutations in HFE transferrin receptor 2 haemojuvelin or hepcidin itself . The remaining cases of genetic iron overload are due to heterozygous mutations in .