Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Pediatr Transplant. 2020 Jun;24(4):e13714. doi: 10.1111/petr.13714. Epub 2020 Apr 22.
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.
DGUK 缺乏症是一种常染色体隐性遗传的线粒体疾病，其特征为肝脏和神经系统表现。在肝功能衰竭的患者中，由于进展性神经疾病的可能性，进行 LT 的决策可能较为困难。我们报告了一例 9 月龄男孩，患有 DGUK 缺乏症（E227K/R118H 基因型），但神经状态完整，且伴有肝功能衰竭。他的 MRI 显示广泛的白质改变，这使得进行 LT 犹豫不决。经过多学科评估，他在 11 个月大时接受了活体供者的 LT。移植后 6 年，他没有出现明显的并发症，也没有出现神经症状的进展。我们的病例支持了这样一种观点，即在存在神经 MRI 发现的情况下，但没有明显的神经症状，对于伴有 E227K/R118H 突变组合和肝功能衰竭的 DGUK 缺乏症患者，LT 是一种可行的选择。
