儿童线粒体脂肪酸-氧化障碍:文献综述

N. Zhurkova, Nato V. Vashakmadze, A. Surkov, Olga Ya. Smirnova, N. S. Sergienko, Natallia G. Ovsyanik, L. Selimzyanova
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引用次数: 0

摘要

先天性线粒体脂肪酸β -氧化障碍是一种异质性代谢障碍,其特征是线粒体脂肪酸代谢受损。它会导致中枢神经系统、骨骼肌、心血管系统和肝脏损伤,并发展为非酮症性低血糖。疾病表现的年龄及其严重程度从严重(新生儿)到轻度肌病(成人)形式不等。俄罗斯联邦大规模筛查方案的扩大使人们能够在生命最初几周内发现这些疾病。线粒体脂肪酸β -氧化障碍的有效治疗,特别是在早期诊断期间,能够及时稳定患者的病情并预防严重的并发症。提高儿科医生、新生儿科医生、神经科医生和心脏病专家对这些疾病的认识是现代儿科的紧迫任务。
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Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review
Congenital mitochondrial fatty acid beta-oxidation disorders are a heterogeneous group of metabolic disorders characterized by impaired fatty acid metabolism in mitochondria. It results in central nervous system, skeletal muscle, cardiovascular system, and liver damage, as well as the development of nonketotic hypoglycemia. The age of disease manifestation and its severity range from severe (neonatal) to milder myopathic (adult) forms. The extension of the mass screening program in Russian Federation allows to detect these diseases during the first weeks of life. The availability of effective therapy for mitochondrial fatty acid beta-oxidation disorders, especially during early diagnosis, enables timely stabilization of the patient's condition and prevention of severe complications. Awareness of pediatricians, neonatologists, neurologists, and cardiologists about such diseases is the urgent task of modern pediatrics.
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