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首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.
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Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

机译：即使在短暂发作后，脑脊液中乳酸的升高也是儿童线粒体疾病的可靠标志。

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BACKGROUND: Increased lactate is an important biochemical marker in diagnosis of children with suspicion of mitochondrial disorders. A diagnostic dilemma may originate if analyses are performed after seizures, when the increased lactate levels may be considered to result from the seizures. To address this problem, we ascertained the diagnostic value of lactate and alanine in blood (B) and cerebrospinal fluid (CSF) in children with mitochondrial disorders (n = 24), epilepsy (n = 32), psychomotor retardation (n = 23), meningitis (n = 12) and meningism (n = 16). METHODS: Lactate concentration was measured using a spectrophotometric method. Amino acids in serum and CSF were analyzed by ion exchange chromatography with ninhydrin detection. RESULTS: Average blood and CSF-lactate levels were significantly higher in children with mitochondrial disorders (3.87 +/- 0.48 and 4.43 +/- 0.55 mmol/l) and meningitis (2.77 +/- 0.45 and 8.58 +/- 1.08 mmol/l) than in children with epilepsy (1.72 +/- 0.13 and 1.62 +/- 0.04 mmol/l), psychomotor retardation (1.79 +/- 1.40 and 1.68 +/- 0.06 mmol/l) or meningism (1.70 +/- 0.13 and 1.64 +/- 0.07 mmol/l). Blood and CSF-alanine levels were also higher in children with mitochondrial disorders (558 +/- 44 and 51 +/- 8 mumol/l) than in children with epilepsy (327 +/- 23 and 27 +/- 3 mumol/l) or psychomotor retardation (323 +/- 27 and 26 +/- 3 mumol/l). The CSF-lactate levels of children with epilepsy were similar whether the samples were obtained 3 +/- 0.6 h after an attack of brief seizures or from children without history of recent seizures. CONCLUSION: Elevated cerebrospinal fluid lactate level is a reliable marker pointing to mitochondrial origin of disease, even in children who have recently suffered short-lasting seizures. Some children with mitochondrial disorders manifest only mild or intermittent elevation of lactate levels.
机译：背景：乳酸的增加是诊断患有线粒体疾病的儿童的重要生化指标。如果癫痫发作后进行分析，可能会导致诊断上的两难境地，此时可能认为癫痫发作导致乳酸水平升高。为了解决这个问题，我们确定了线粒体疾病（n = 24），癫痫（n = 32），精神运动发育迟缓（n = 23）的儿童血液（B）和脑脊液（CSF）中乳酸和丙氨酸的诊断价值。 ，脑膜炎（n = 12）和脑膜炎（n = 16）。方法：使用分光光度法测量乳酸浓度。通过茚三酮检测的离子交换色谱法分析血清和脑脊液中的氨基酸。结果：线粒体疾病（3.87 +/- 0.48和4.43 +/- 0.55 mmol / l）和脑膜炎（2.77 +/- 0.45和8.58 +/- 1.08 mmol / l）患儿的平均血液和CSF乳酸水平明显更高）患癫痫（1.72 +/- 0.13和1.62 +/- 0.04 mmol / l），精神运动发育迟缓（1.79 +/- 1.40和1.68 +/- 0.06 mmol / l）或脑膜炎（1.70 +/- 0.13和1.64 +/- 0.07 mmol / l）。线粒体疾病患儿的血液和CSF丙氨酸水平也较高（558 +/- 44和51 +/- 8 mumol / l），高于癫痫患儿（327 +/- 23和27 +/- 3 mumol / l） ）或精神运动迟缓（323 +/- 27和26 +/- 3 mumol / l）。癫痫患儿的CSF乳酸盐水平相似，无论是在短暂发作后3 +/- 0.6 h还是没有近期发作史的患儿中采集样本。结论：脑脊液乳酸水平升高是线粒体疾病起源的可靠标志，即使在最近发作持续时间较短的儿童中也是如此。一些患有线粒体疾病的儿童仅表现出乳酸水平的轻度或间歇性升高。

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