title: Frequency and influence of hemochromatosis gene mutations in kidney transplant recipients with or without hepatitis C virus infection.
abstract: Mutations in hemochromatosis gene cause an inappropriately high absorption of iron that induces iron overload and deposition in several tissues, such as liver, pancreas, and heart. Iron overload in the liver has been associated with a high risk of hepatocarcinoma and susceptibility to viral and bacterial infections. The aim of this study was to describe the frequencies of HFE mutations among a kidney transplant population with versus without hepatitis C virus (HCV) infection, and its influence on liver and kidney status parameters. We selected 3 populations: 2 groups of kidney transplant recipients-59 with and 60 without HCV infection-and a third control group of 50 healthy subjects. We collected clinical data concerning liver and kidney status, such as iron, ferritin, albumin, creatinine, gamma GGT, GOT, proteinuria, %prothrombin, and Bilirubin. HFE mutations among patients and controls were determined by polymerase chain reaction-restriction fragment length polymorphism using DNA from the peripheral blood. We observed no significant difference with respect to the frequencies of HFE mutations between controls and patients with versus without HCV infection. Finally comparison of HFE positive versus negative mutation carriers in both groups suggest that any clinical parameter is associated with HFE mutations.
authors.affiliation: Department of Immunology, Hospital Universitario 12 de Octubre, Madrid, Spain. yukamadrid@hotmail.com
authors.forename: E
authors.initials: E
authors.lastname: Ramírez
authors.forename: A
authors.initials: A
authors.lastname: Pacho
authors.forename: J M
authors.initials: JM
authors.lastname: Morales
authors.forename: I
authors.initials: I
authors.lastname: De Castro
authors.forename: E
authors.initials: E
authors.lastname: Paz-Artal
authors.forename: P
authors.initials: P
authors.lastname: Morales
mesh_terms: D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D001663:Bilirubin / Q000097:blood; D005260:Female; D005787:Gene Frequency; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006526:Hepatitis C / Q000150:complications*; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007677:Kidney Function Tests; D016030:Kidney Transplantation / Q000009:adverse effects*; D008111:Liver Function Tests; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D011517:Prothrombin Time; D012016:Reference Values
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D001663:Bilirubin