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[新生儿代谢性起源癫痫]

[Epilepsias de origen metabólico en el neonato].

作者信息

Campistol Plana Jaume

机构信息

Servicio de Neuropediatría, Hospital Universitario Sant Joan de Deu, Barcelona, España. E-mail:

出版信息

Medicina (B Aires). 2019;79 Suppl 3:20-24.

Abstract

Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.

摘要

表现为癫痫发作和癫痫的神经代谢疾病是一大类遗传性疾病。它们可在从新生儿期到青春期的任何年龄出现。癫痫表现可能非常多样,而且一般来说,它们是对抗癫痫药物难治的癫痫。癫痫现象学无助于诊断。应了解那些对使用辅助因子有反应的先天性代谢缺陷。在急性失代偿期,提供营养、水电解质和呼吸支持至关重要。几年后我们有可能检测出这些疾病的代谢组学特征,从而更好地进行无创诊断,并为其癫痫尤其是潜在疾病提供更多治疗可能性。我们绝不能忽视短暂性代谢紊乱和癫痫发作原因中的电解质失衡,尤其是在新生儿期,必须尽早识别并治疗以避免重大损害。

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