Cause of Death in Children With Mitochondrial Diseases
Cause of Death in Children With Mitochondrial Diseases
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DOI：
10.1016/j.pediatrneurol.2016.10.006
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发表时间：
2017-01-01
影响因子：
3.8
通讯作者：
Lee, Young-Mock
中科院分区：
文献类型：
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作者：
Eom, Soyong;Lee, Ha Neul;Lee, Young-Mock
背景：我们调查了线粒体疾病患儿死亡危险因素的临床特征。方法：对2006年至2015年期间参加的线粒体疾病儿科患者（n = 221）的病历进行了审查，以了解其临床特征、诊断、住院、随访、生存和死亡原因。结果：该队列的总体死亡率为14%（平均死亡年龄为6岁）。根据综合征诊断，死亡率如下：Leigh综合征，17%（15/88）;线粒体脑肌病、乳酸酸中毒和卒中样发作，50%（2/4）;非特异性线粒体疾病，11%（14/129）。死亡原因分析中纳入了31例患者（17例男性）的数据。症状发作时的年龄、诊断前的时间、疾病持续时间和生命持续时间分别为1.8 +/- 2.0、1.7 +/- 1.5、4.3 +/- 2.7和6.1 +/- 2.9年。最常见的死亡原因是脓毒症、肺炎、弥散性血管内凝血和意外猝死（分别为55%、42%、29%和29%）。早期死亡（6岁或6岁以下）与丘脑病变、受累器官数量和Leigh综合征有关。结论：仔细监测病情和早期干预是提高线粒体疾病患儿生存率的关键。
BACKGROUND: We investigated the clinical characteristics that represent risk factors for death in pediatric patients with mitochondrial diseases. METHODS: The medical records of mitochondrial disease pediatric patients attended between 2006 and 2015 (n = 221) were reviewed for clinical characteristics, diagnosis, hospitalization, follow-up, survival, and cause of death. RESULTS: The global mortality rate in the cohort was 14% (average age at death, six years). By syndromic diagnosis, the mortality rates were as follows: Leigh syndrome, 17% (15 of 88); mitochondrial encephalomyopathy, lactic acidosis, and stroke -like episodes, 50% (two of four); and nonspecific mitochondrial disease, 11% (14 of 129). Data regarding 31 patients (17 males) were included in the analysis of cause of death. The age at symptom onset, lead time to diagnosis, duration of illness, and duration of life were 1.8 +/- 2.0, 1.7 +/- 1.5, 4.3 +/- 2.7, and 6.1 +/- 2.9 years, respectively. The most common causes of death were sepsis, pneumonia, disseminated intravascular coagulation, and sudden unexpected death (55%, 42%, 29%, and 29%, respectively). Early death (age six years or younger) was associated with lesions in the thalamus, number of organs involved, and Leigh syndrome. CONCLUSIONS: Careful monitoring of the medical condition and early intervention are key to improving survival in pediatric patients with mitochondrial disease.