Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
复制标题
线粒体疾病活体捐献者的小儿肝移植：DGUOK 缺乏症的良好结果？
DOI：
10.1111/petr.13714
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发表时间：
2020
影响因子：
1.3
通讯作者：
S. Mohammad
中科院分区：
文献类型：
--
作者：
Shahzeb Hassan;A. Mahmoud;T. Mohammed;S. Mohammad
DGUOK缺乏症是一种常染色体隐性线粒体疾病，以肝脏和神经系统表现为特征。在肝功能衰竭患者中，由于可能出现进行性神经系统疾病，因此很难决定是否进行肝移植。我们报告了一个9个月大的男孩，他患有DGUOK缺乏症（E227K/R118H基因型），神经系统完好，肝功能衰竭。他的MRI显示广泛的白质改变，这使得他犹豫是否要进行肝移植。在多学科评估后，他在11个月大时接受了活体供体肝移植。移植后6年，患者无明显并发症，神经系统症状无进展。我们的病例表明，即使有神经MRI检查结果，但在没有明显神经症状的情况下，对于伴有E227K/R118H突变合并肝衰竭的DGUOK‐缺陷患者，肝移植是一种可行的选择。
DGUOK deficiency is an autosomal recessive mitochondrial disorder characterized by hepatic and neurological manifestations. In patients with liver failure, the decision to perform LT can be difficult due to the likelihood of progressive neurological disease. We present a case of a 9‐month‐old boy who had DGUOK deficiency (E227K/R118H genotype) intact neurological status and liver failure. His MRI indicated extensive white matter changes, which created hesitation to perform LT. After a multidisciplinary evaluation, he underwent LT from a living donor at 11 months of age. Six years post‐transplant, he has had no significant complications and no progression of neurological symptoms. Our case supports that even in the presence of neurological MRI findings, but in the absence of significant neurological symptoms, LT represents a viable option in DGUOK‐deficient patients who have the E227K/R118H mutation combination along with liver failure.