Adams Paul C, McAlister Vivian, Chakrabarti Subrata, Levstik Mark, Marotta Paul
Department of Medicine, University of Western Ontario, London, Ontario.
Can J Gastroenterol. 2008 Oct;22(10):851-3. doi: 10.1155/2008/961928.
Hepcidin is a circulating hepatic hormone that regulates iron balance. It has been speculated that hepcidin insufficiency or dysregulation may be the primary defect in genetic hemochromatosis.
A 62-year-old woman underwent elective liver transplantation for chronic hepatitis C cirrhosis. Genetic testing for hemochromatosis was subsequently performed on the donor and recipient. Liver iron concentration was measured in the donated liver at the time of transplantation, and at day 2 and day 652 post-transplant. Serum hepcidin was measured at day 935 in the recipient and in three other liver transplant recipients.
The donor was discovered to have significant iron overload without fibrosis, with a liver iron concentration of 326 micromol/g (normal is 0 micromol/g to 35 micromol/g). Genetic testing confirmed that the 89-year-old female donor was a typical C282Y homozygote for hemochromatosis. The recipient did not carry either the C282Y or the H63D mutation of the HFE gene for hemochromatosis. Liver biopsy was performed on the recipient on day 2 and day 652 post-transplant; the liver iron concentrations were 333 micromol/g and 253 micromol/g, respectively. Serum hepcidin in the recipient was elevated at 111 ng/mL compared with that of the three other ambulatory liver transplant recipients (66 ng/mL, 76 ng/mL and 81 ng/mL).
The liver transplant recipient described in the present report demonstrated a slight decrease in liver iron concentration over a 1.8-year follow-up period without specific therapy. Hepcidin insufficiency as a primary cause of genetic hemochromatosis seems unlikely based on the clinical profile of the present patient and the hepcidin measurements.
铁调素是一种调节铁平衡的循环肝脏激素。据推测，铁调素不足或调节异常可能是遗传性血色素沉着症的主要缺陷。
一名62岁女性因慢性丙型肝炎肝硬化接受择期肝移植。随后对供体和受体进行了血色素沉着症的基因检测。在移植时、移植后第2天和第652天测量捐赠肝脏中的肝脏铁浓度。在移植后第935天测量受体及其他三名肝移植受体的血清铁调素。
发现供体有明显的铁过载但无纤维化，肝脏铁浓度为326微摩尔/克（正常为0微摩尔/克至35微摩尔/克）。基因检测证实，这位89岁的女性供体是血色素沉着症的典型C282Y纯合子。受体未携带血色素沉着症HFE基因的C282Y或H63D突变。在移植后第2天和第652天对受体进行肝脏活检；肝脏铁浓度分别为333微摩尔/克和253微摩尔/克。受体的血清铁调素升高至111纳克/毫升，而其他三名非卧床肝移植受体的血清铁调素分别为66纳克/毫升、76纳克/毫升和81纳克/毫升。
本报告中描述的肝移植受体在1.8年的随访期内未接受特殊治疗，肝脏铁浓度略有下降。根据本患者的临床情况和铁调素测量结果，铁调素不足作为遗传性血色素沉着症的主要原因似乎不太可能。
