Transplantation of a liver with the C282Y mutation into a recipient heterozygous for H63D results in iron overload.

摘要

Hemochromatosis is a common hereditary disease associated with progressive iron overload eventually leading to parenchymal damage of the liver, heart, pancreas, and other organs. Liver transplantation has been the single most important therapy to extend long-term survival in patients with a variety of acute and chronic liver diseases. We report a case of inadvertent transplantation of a hemochromatotic liver into a nonhemochromatotic recipient, resulting in rapid iron overload. Neither the recipient nor the donor had iron overload at the time of transplantation, but the donor liver was subsequently found to be homozygous for C282Y mutation. The report includes 8 years follow-up, serial biopsies, and molecular studies. Iron overload in our patient transplanted with a C282Y homozygous liver provides an "in vivo" model for the pathophysiology of hemochromatosis and further supports liver playing a primary role in the maintenance of iron hemostasis rather intestine being the sole regulatory site.