PDF(Pubmed)
Abstract：
UNASSIGNED: To study the effectiveness of liver transplantation (LT) in treating mitochondrial DNA depletion syndrome (MDS) caused by the MPV17 gene variant.
UNASSIGNED: A boy aged 2.8 years presented with edema of the lower limbs and abdomen, which persisted for over 10 days and was of unknown origin; this was accompanied by abnormal liver function, intractable hypoglycemia, and hyperlactatemia. During the second week of onset, he developed acute-on-chronic liver failure and was diagnosed with MDS due to homozygous variant c.293C>T in the MPV17 gene. Subsequently, he underwent LT from a cadaveric donor. At follow-up after 15 months, his liver function was found to be normal, without any symptoms. Additionally, a literature review was performed that included MDS patients with the MPV17 variant who underwent LT. The results demonstrated that the survival rates for MDS patients who underwent LT were 69.5%, 38.6%, 38.6%, and 38.6% at 1-year, 5-year, 10-year, and 20-year intervals, respectively. Sub-group analyses revealed the survival rate of MDS patients with isolated liver disease (83.33%, 5/6) was higher than that of hepatocerebral MDS patients (44.44%, 8/18). Fifteen variants were identified in the MPV17 gene, and patients with the c.293C>T (p.P98l) variant exhibited the highest survival rate.
UNASSIGNED: Hepatocerebral MDS patients without neurological symptoms may benefit from LT.
UNASSIGNED: A boy aged 2.8 years presented with edema of the lower limbs and abdomen, which persisted for over 10 days and was of unknown origin; this was accompanied by abnormal liver function, intractable hypoglycemia, and hyperlactatemia. During the second week of onset, he developed acute-on-chronic liver failure and was diagnosed with MDS due to homozygous variant c.293C>T in the MPV17 gene. Subsequently, he underwent LT from a cadaveric donor. At follow-up after 15 months, his liver function was found to be normal, without any symptoms. Additionally, a literature review was performed that included MDS patients with the MPV17 variant who underwent LT. The results demonstrated that the survival rates for MDS patients who underwent LT were 69.5%, 38.6%, 38.6%, and 38.6% at 1-year, 5-year, 10-year, and 20-year intervals, respectively. Sub-group analyses revealed the survival rate of MDS patients with isolated liver disease (83.33%, 5/6) was higher than that of hepatocerebral MDS patients (44.44%, 8/18). Fifteen variants were identified in the MPV17 gene, and patients with the c.293C>T (p.P98l) variant exhibited the highest survival rate.
UNASSIGNED: Hepatocerebral MDS patients without neurological symptoms may benefit from LT.
摘要：
■研究肝移植（LT）治疗MPV17基因变异引起的线粒体DNA耗竭综合征（MDS）的有效性。
■一名2.8岁男孩下肢和腹部水肿，持续超过10天，来源不明；这伴有肝功能异常，顽固性低血糖,和高乳酸血症。在发病的第二周，由于MPV17基因中的纯合变异c.293C>T，他发展为慢性急性肝衰竭，并被诊断为MDS。随后，他接受了尸体捐赠者的LT。在15个月后的随访中，肝功能正常,没有任何症状。此外,我们进行了文献综述,包括接受LT的MPV17变异的MDS患者.结果显示，接受LT的MDS患者的生存率为69.5%，38.6%,38.6%,一年为38.6%，5年,10年,和20年的间隔，分别。亚组分析显示有孤立性肝病的MDS患者的生存率(83.33%,5/6)高于肝脑MDS患者(44.44%,8/18).在MPV17基因中鉴定出15种变异，和c.293C>T的患者（p。P98l)变体表现出最高的存活率。
■无神经系统症状的肝脑MDS患者可能受益于LT。
■一名2.8岁男孩下肢和腹部水肿，持续超过10天，来源不明；这伴有肝功能异常，顽固性低血糖,和高乳酸血症。在发病的第二周，由于MPV17基因中的纯合变异c.293C>T，他发展为慢性急性肝衰竭，并被诊断为MDS。随后，他接受了尸体捐赠者的LT。在15个月后的随访中，肝功能正常,没有任何症状。此外,我们进行了文献综述,包括接受LT的MPV17变异的MDS患者.结果显示，接受LT的MDS患者的生存率为69.5%，38.6%,38.6%,一年为38.6%，5年,10年,和20年的间隔，分别。亚组分析显示有孤立性肝病的MDS患者的生存率(83.33%,5/6)高于肝脑MDS患者(44.44%,8/18).在MPV17基因中鉴定出15种变异，和c.293C>T的患者（p。P98l)变体表现出最高的存活率。
■无神经系统症状的肝脑MDS患者可能受益于LT。
