Cransac M, Carles J, Bernard P H, Malavialle P, Freyburger G, Winnock S, Saric J
Department of Liver Transplantation, Pellegrin University Hospital, Bordeaux, France.
Transpl Int. 1995;8(4):307-11. doi: 10.1007/BF00346885.
Orthotopic liver transplantation is now a successful treatment for end-stage liver diseases. Since most components of the coagulation system are synthesized by liver parenchymal cells, there is always a risk of genetic defects of hemostasis being transmitting by liver transplantation. Some coagulation factor defects, such as protein C deficiency, do not induce abnormalities in routine coagulation tests and, thus, go undetected before organ procurement. We report the first case, to our knowledge, of the transmission of heterozygous protein C deficiency, an autosomal recessive genetic defect, associated with dysfibrinogenemia, an autosomal dominant trait, by liver transplantation. Both the recipient and the donor presented with severe thrombotic complications. This case shows that potentially morbid genetic defects can be transmitted by organ transplantation, and it emphasizes the difficulty associated with organ procurement criteria, particularly for liver transplantation, in which routine blood tests appear insufficient for determining whether or not organs can or should be procured from a given donor.
原位肝移植现已成为治疗终末期肝病的一种成功方法。由于凝血系统的大多数成分是由肝实质细胞合成的，肝移植始终存在传递止血遗传缺陷的风险。一些凝血因子缺陷，如蛋白C缺乏症，在常规凝血试验中不会引起异常，因此在器官获取前未被发现。据我们所知，我们报告了首例因肝移植传递杂合性蛋白C缺乏症（一种常染色体隐性遗传缺陷）以及异常纤维蛋白原血症（一种常染色体显性性状）的病例。受体和供体均出现了严重的血栓形成并发症。该病例表明，潜在的致病遗传缺陷可通过器官移植传递，它强调了器官获取标准相关的困难，特别是对于肝移植而言，常规血液检测似乎不足以确定是否能够或应该从特定供体获取器官。
