The Clinical Magnetic Resonance Imaging Findings And Expression Of Hepcidin MRNA In Livers Of A Hereditary Hemochromatosis Pedigree

Objective: Describe the clinical magnetic resonance imaging(MRI) features and the expression of hepcidin mRNA in livers of a hereditary hemochromatosis(HHC) pedigree(A) and its collateral(B). In order to clarify the probable pathogenesis of this HHC pedigree.Methods: Clinical, biochemical, liver histopathology and MRI studies were carried out among the family members. The expressions of hepcidin mRNA in liver tissues were detected by qRT-PCR.Results:(1) A portion of this pedigree members shows off hemochromatosis correlating symptom and physical sign. The serum iron, ferritin concentration and liver function present different abnormal elevation, but the blood glucose is normal. B portion of this pedigree members shows off no hemochromatosis correlating symptom and physical sign, and the serum iron, ferritin concentration and liver function present slightly abnormal of part of B portion members, but the liver function and blood glucose are normal.(2)3 patients received liver biopsy, of which 2 patients suffered from extensive hepatic hemosiderin deposition which was revealed after the Prussian blue iron stain, and 1 patient was quite normal.(3) Iron overload was found in some members of the pedigree, especially in the liver, pancreas, heart and the spleen by showing low signals on MRI, a highly T2-weighted GRE sequence was most sensitive,but no iron overload was observed in the brain and kidney.(4) The expressions of hepcidin mRNA in all the three samples were up-regulated.Conclusion :(1) Iron overload was found primarily in the liver and then in the heart,spleen and pancreas of HHC members of A portion of the pedigree; only some members of B portion were found having abnormal biochemical examination and iron overload in some organs , without any hemochromatosis correlating symptom and physical sign.Further follow up were needed to know if they were on the early stage of HHC.(2) Compared with the liver biopsy, MRI is more accurate diagnostic tool for iron overload in tissues.(3) Three patients'expressions of hepcidin mRNA were up-regulated, which indicates that the hepcidin level was increased in serum.This suggests the existence of hepcidin resistence. Maybe this resistence influences the negative regulation action of hepcidin, and then result in iron deposition.