Long-term follow-up of neonatal mitochondrial cytopathies:: A study of 57 patients
Long-term follow-up of neonatal mitochondrial cytopathies:: A study of 57 patients
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DOI：
10.1542/peds.2004-2407
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发表时间：
2005-11-01
期刊：
影响因子：
8
通讯作者：
Saudubray, JM
中科院分区：
文献类型：
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作者：
García-Cazorla, A;De Lonlay, P;Saudubray, JM
目标。我们试图确定患有线粒体细胞病变(MC)的新生儿的长期临床和生化结果，并确定可能影响这些疾病病程的预后因素。材料和方法。在一项回顾研究(1983-2002)中发现了57名患有MC的新生儿。我们定义了两个不同的结果类别：临床(神经系统、肝脏、肌病和多器官)和生化(乳酸水平正常化或最初正常保持不变，下降但未正常化，以及持续高水平)。我们使用了两种不同的统计方法：(1)使用Kaplan-Meier方法进行取决于初始症状和乳酸和酶缺乏的生存研究；(2)使用CHI(2)检验将相同的变量与不同的生存年龄组和临床和生化结果类别进行比较。33例患者死亡(57.8%)，12例存活(21%)，12例在随访中丢失；其中6例目前年龄超过4岁。随着时间的推移，大多数患者表现为多器官疾病(64.8%)和高乳酸水平(77.1%)。存活到2.5至3岁的儿童更有可能长期存活。最初的神经系统和肝脏表现分别增加了发展为神经系统疾病和严重持续性高乳酸血症的风险。最初严重的高乳酸血症和复合酶缺乏是高死亡率和多器官功能障碍的重要危险因素。两名仅有肌病预后的患者在12岁时仍活着，认知正常。患有新生儿肥大的儿童死亡率很高，前景黯淡。然而，一些有生命危险的症状可能会逐渐好转，导致不那么严重的疾病。那些只有肌病症状的人预后更好。
Objectives. We sought to determine the long-term clinical and biochemical outcome of newborns with mitochondrial cytopathies (MCs) and to identify possible prognostic factors that may modify the course of these diseases.Material and Methods. Fifty-seven newborns with MCs were identified in a retrospective review ( 1983 2002). We defined 2 different outcome categories: clinical ( neurologic, hepatic, myopathic, and multiorganic) and biochemical ( lactate level normalization or initially normal remaining unchanged, decreased but not normalized, and persistently high). We used 2 different statistical approaches: ( 1) survival studies depending on the initial symptoms and lactate and enzymatic deficiencies using the Kaplan-Meier method; and ( 2) the same variables compared with different survival age groups and clinical and biochemical outcome categories using the chi(2) test.Results. Thirty-three patients died (57.8%), 12 remain alive (21%),and 12 were lost in the follow-up; 6 of them are currently older than 4 years. Most of the patients manifested multiorganic disease (64.8%) and high lactate level (77.1%) over time. Children surviving to 2.5 to 3 years of age were more likely to survive for a long period of time. Initial neurologic and hepatic presentation increased the risk to develop neurologic disease and severe persistent hyperlactacidemia, respectively. Initial severe hyperlactacidemia and combined enzyme deficiencies were significant risk factors for higher mortality and multiorganic disorders. Two patients with exclusively myopathic outcome are alive and cognitively normal at 12 years of life.Conclusions. Children with neonatal-onset MCs have very high mortality and poor prospects. However, some with life-threatening presentations may gradually improve, giving rise to less severe diseases. Those with exclusively myopathic symptoms have a better prognosis.