Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children
Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children
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肝移植治疗儿童线粒体呼吸链疾病的结果
DOI：
10.1111/petr.14091
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发表时间：
2021
影响因子：
1.3
通讯作者：
Kasahara Mureo
中科院分区：
文献类型：
--
作者：
Uchida Hajime;Sakamoto Seisuke;Shimizu Seiichi;Yanagi Yusuke;Fukuda Akinari;Horikawa Reiko;Ito Reiko;Matsunaga Ayako;Murayama Kei;Kasahara Mureo
目的线粒体呼吸链疾病（MRCD）可引起急性肝功能衰竭（ALF），这可能需要肝移植（LT）。然而，MRCD在LT之前通常难以诊断，并且由于可能发生进行性神经系统疾病，LT的适应证存在争议。本研究进一步描述了患者人群的特点，并描述了outcomes.MethodsThirteen例接受LT MRCD从2005年11月至2020年5月入组本study.ResultsSix的13 MRCD患者被诊断为线粒体内膜蛋白17相关的线粒体DNA耗竭综合征（MTDPS）。总体而言，9例存活，中位随访时间为1.8年（IQR，1.3-5.1年）; 4例在2年内死亡。从长远来看，7名幸存者在LT后没有出现肌张力减退的进展，并参加了正常的幼儿园或小学。在两名幸存者中观察到神经系统异常，包括一名患者中与Leber遗传性视神经病变相关的视力丧失和另一名患者中与Leigh综合征相关的精神发育迟滞。LT后3例非存活者被诊断为MTDPS，死于LT后8、9和18个月发生的重度肺动脉高压（各n=1）。其余患者死于术后呼吸道感染与呼吸道合胞病毒conclusionThe长期的结果支持LT的MRCD患者的性能，虽然基因诊断是更可取的，以确定准确的适应症LT在这些患者。此外，在长期随访期间应注意避免因线粒体功能障碍引起的并发症。
AimMitochondrial respiratory chain disorder (MRCD) can cause acute liver failure (ALF), which may necessitate liver transplantation (LT). However, MRCD is often difficult to diagnose before LT and the indications of LT are controversial due to the likelihood of progressive neurological disease. The present study further characterized the patient population and described the outcomes.MethodsThirteen patients who underwent LT for MRCD from November 2005 to May 2020 were enrolled in this study.ResultsSix of 13 MRCD patients were diagnosed with a mitochondrial inner membrane protein 17‐related mitochondrial DNA depletion syndrome (MTDPS). Overall, nine survived with a median follow‐up of 1.8 years (IQR, 1.3–5.1 years); four died within 2 years. In the long‐term, seven survivors showed no progression of hypotonia after LT and attended a normal kindergarten or primary school. Neurological abnormalities were observed in two survivors, including vison loss related to Leber's hereditary optic neuropathy in one patient and psychomotor retardation related to Leigh syndrome in the other. Three non‐survivors after LT were diagnosed with MTDPS and died of severe pulmonary hypertension, which had developed at 8, 9, and 18 months after LT (n=1 each). The remaining patient died of postoperative respiratory infection with respiratory syncytial virus.ConclusionThe long‐term results support the performance of LT in patients with MRCD, although a genetic diagnosis is preferable for determining the accurate indications for LT in these patients. Furthermore, care should be taken to avoid complications due to mitochondrial dysfunction during the long‐term follow‐up.
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DOI：
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发表时间：
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期刊：
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10.1016/j.jpeds.2013.05.036
发表时间：
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DOI：
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发表时间：
2007
期刊：
Mitochondrion 7
影响因子：
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作者：
Tanaka M;Nishigaki Y;Ibi T;Sahashi K. Koga Y.
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