Wesół-Kucharska Dorota, Rokicki Dariusz, Jezela-Stanek Aleksandra
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04730 Warsaw, Poland.
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 26 Plocka Str, 01138 Warsaw, Poland.
Children (Basel). 2021 Jun 22;8(7):532. doi: 10.3390/children8070532.
Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease.
线粒体疾病是一组异质性疾病,由于氧化磷酸化受损导致能量不足和三磷酸腺苷(ATP)生成减少。线粒体疾病的表现通常累及多个器官。癫痫是线粒体功能障碍所致疾病最常见的表现之一,尤其是在儿童中。癫痫发作与预后不良相关,而其治疗极具挑战性,这进一步对这些疾病的病程产生不利影响。幸运的是,我们对线粒体疾病的认识仍在不断增加,这给患者带来了未来病情改善的希望。本文介绍了线粒体疾病患者癫痫的病理生理学、临床表现及治疗选择。