PDF(Pubmed)
Abstract：
BACKGROUND Maple syrup urine disease (MSUD) is a rare genetic deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKAD) complex that breaks down amino acids, resulting in multi-organ failure. This report is of 5 pediatric cases of domino liver transplantation (DLT) from live donors with MSUD from a single transplant center in Beijing. CASE REPORT All MSUD donors were confirmed to have disease-causing mutations in BCKDHA (branched-chain keto acid dehydrogenase E1, alpha polypeptide) or BCKDHB (branched-chain keto acid dehydrogenase E1, ß polypeptide) genes by peripheral blood whole-exon sequencing. Serum leucine and valine concentrations were significantly higher than normal values. Recipients ranged in age from 0.75 to 9 years old. Three patients underwent auxiliary liver transplantation, and the other children all underwent liver or partial liver transplantation. This case report was followed up for 25 to 79 months. The prognosis, growth, and development of patients were followed up. By the end of the last follow-up, all children had survived. All patients had normal serum leucine and valine concentrations after surgery. In case 1, portal vein stenosis post-operatively. In case 2, stenosis of hepatic artery and bile duct occurred. In case 5, hepatic artery and portal vein stenosis occurred, resulting in graft loss. CONCLUSIONS The findings from our center support the findings from other pediatric liver transplant centers that liver transplantation using MSUD donors can have successful outcomes without the development of MSUD in the recipient.
摘要：
背景枫糖浆尿病（MSUD）是一种罕见的支链α-酮酸脱氢酶（BCKAD）复合物的遗传缺陷，可以分解氨基酸，导致多器官衰竭。本报告是来自北京单个移植中心的MSUD活体供体的5例多米诺肝移植（DLT）儿科病例。病例报告通过外周血全外显子测序证实所有MSUD供体在BCKDHA（支链酮酸脱氢酶E1，α多肽）或BCKDHB（支链酮酸脱氢酶E1，β多肽）基因中有致病突变。血清亮氨酸和缬氨酸浓度均明显高于正常值。接受者的年龄为0.75至9岁。3例患者行辅助性肝移植,其余患儿均接受肝脏或部分肝脏移植。该病例报告随访25～79个月。预后，增长,并对患者的发展情况进行了随访。在最后一次随访结束时，所有的孩子都活了下来。所有患者术后血清亮氨酸和缬氨酸浓度均正常。在病例1中,门静脉术后狭窄。病例2出现肝动脉和胆管狭窄。病例5，发生肝动脉和门静脉狭窄，导致移植物丢失。结论我们中心的发现支持其他儿科肝移植中心的发现，即使用MSUD供体的肝移植可以在不发生MSUD的情况下获得成功的结果。
