Qu Wei, Zhu Zhi-Jun, Wei Lin, Sun Li-Ying, Liu Ying, Zeng Zhi-Gui
Liver Transplantation Section, Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, Yong'an road, 95, Xicheng District, Beijing, PR China; National Clinical Research Center of Digestive Diseases, Beijing, PR China; Clinical Center for Pediatric Liver Transplantation, Capital Medical University, Beijing, PR China.
Clin Res Hepatol Gastroenterol. 2019 Oct;43(5):527-532. doi: 10.1016/j.clinre.2019.01.010. Epub 2019 Mar 7.
Hyperhomocysteinemia, resulting from a cystathionine beta synthase (CBS) deficiency, is an autosomal recessive disease associated with high levels of homocysteine. Such patients can present with severe mental retardation, ectopia lentis and osteoporosis and thromboembolic disease. To the best of our knowledge, only two cases of liver transplantation for CBS deficiency have been published. Here, we report a case of an 8-year-old male with a CBS deficiency that underwent living donor liver transplantation. The postoperative course was uneventful and homocysteine levels remained normal. The liver of this CBS deficiency patient was then successfully used in domino transplantation. The domino liver transplantation recipient was a 41-year-old male diagnosed with acute liver failure following hemi-liver resection due to cholangiocarcinoma. The domino recipient developed acquired hyperhomocysteinemia, which was controlled with a special regimen of medications. No complications relative to CBS deficiency were observed up to 11 months post-transplant. At this time, the patient expired as a result of cholangiocarcinoma recurrence. In conclusion, our data suggest that liver transplantation for CBS deficiency can be effective, safe and beneficial. It is possible to be both safe and beneficial to use a CBS deficiency patient as a domino donor for salvage liver transplantation in a selective category of recipients.
同型半胱氨酸血症是一种常染色体隐性疾病，由胱硫醚β合酶（CBS）缺乏引起，与高同型半胱氨酸水平相关。此类患者可能出现严重智力发育迟缓、晶状体异位、骨质疏松和血栓栓塞性疾病。据我们所知，仅有两例关于CBS缺乏症肝移植的病例发表。在此，我们报告一例8岁男性CBS缺乏症患者接受活体供肝肝移植的病例。术后过程顺利，同型半胱氨酸水平保持正常。该CBS缺乏症患者的肝脏随后成功用于多米诺肝移植。多米诺肝移植受者是一名41岁男性，因胆管癌行半肝切除术后被诊断为急性肝衰竭。多米诺受者出现了获得性高同型半胱氨酸血症，通过特殊药物治疗方案得以控制。移植后11个月内未观察到与CBS缺乏相关的并发症。此时，患者因胆管癌复发死亡。总之，我们的数据表明，CBS缺乏症肝移植可能有效、安全且有益。在特定类型的受者中，将CBS缺乏症患者作为多米诺供体用于挽救性肝移植既安全又有益。
