Parental Living Donor Liver Transplantation as a Solution in Medical Treatment-Resistant Cystathionine-β-Synthase Deficiency: A Single-Center Case Series.

IF 1.2 4区 医学 Q3 PEDIATRICS
Yong-Fa Huang, Lin Wei, Wei Qu, Zhi-Gui Zeng, Li-Ying Sun, Zhi-Jun Zhu
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Abstract

Introduction: Cystathionine-β-synthase deficiency (CBSd) is an inherited metabolic liver disease causing morbidities in eyes, skeleton, brain, and vasculature. Despite its potential lethality due to thromboembolism and liver failure, sole diagnosis of CBSd seemed not to fulfill the enlistment criteria for deceased donor liver transplantation in previous reports.

Methods: We retrospectively reviewed three cases of living donor liver transplantation (LDLT) for pediatric CBSd patients responding poorly to conservative treatment in Beijing Friendship Hospital, and a literature review was performed.

Results: Patients 1 and 3 received donated partial liver from heterozygous carrier parents, and Patient 2 received donated partial liver from a CBS-competent parent. Patient 2 developed portal thrombus 1 day after LDLT, which was resolved with surgical thrombectomy and reconstruction. Patients 1 and 3 had their resected liver donated to other patients with advanced liver cancer, and the domino grafts functioned well until the death due to tumor recurrence.

Conclusion: Parental LDLT, whether from carriers or not, is an appropriate alternative for CBSd patients resistant to medical treatment. Risk of peri-operative thromboembolism might be higher in CBSd than in other LDLT cases, and explanted livers with CBSd could serve as domino grafts.

父母活体供体肝移植作为药物耐药半胱硫氨酸-β-合成酶缺乏症的解决方案:单中心病例系列
简介:半胱硫氨酸-β-合成酶缺乏症(CBSd)是一种遗传性代谢性肝脏疾病,可引起眼睛、骨骼、大脑和血管系统的病变。尽管由于血栓栓塞和肝功能衰竭而具有潜在的致命性,但在以前的报道中,CBSd的单一诊断似乎不符合已故供体肝移植的征召标准。方法:回顾性分析北京友谊医院收治的3例儿童CBSd患者活体供肝移植(LDLT)保守治疗效果不佳的病例,并进行文献复习。结果:患者1和患者3接受了来自杂合携带者父母的部分肝脏捐献,患者2接受了来自cbs合格父母的部分肝脏捐献。患者2在LDLT术后1天出现门静脉血栓,通过手术取栓重建解决。患者1和3将切除的肝脏捐献给其他晚期肝癌患者,多米诺骨牌移植物功能良好,直到因肿瘤复发而死亡。结论:无论是否来自携带者,亲本LDLT都是治疗CBSd耐药患者的合适选择。与其他LDLT病例相比,CBSd患者围手术期血栓栓塞的风险可能更高,并且带有CBSd的外植肝脏可以作为多米诺骨牌移植物。
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来源期刊
Pediatric Transplantation
Pediatric Transplantation 医学-小儿科
CiteScore
2.90
自引率
15.40%
发文量
216
审稿时长
3-8 weeks
期刊介绍: The aim of Pediatric Transplantation is to publish original articles of the highest quality on clinical experience and basic research in transplantation of tissues and solid organs in infants, children and adolescents. The journal seeks to disseminate the latest information widely to all individuals involved in kidney, liver, heart, lung, intestine and stem cell (bone-marrow) transplantation. In addition, the journal publishes focused reviews on topics relevant to pediatric transplantation as well as timely editorial comment on controversial issues.
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