Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
J Dev Behav Pediatr. 2010 Sep;31(7):610-21. doi: 10.1097/DBP.0b013e3181ef42c1.
Mitochondrial disease is an increasingly recognized but widely heterogeneous group of multisystemic disorders that commonly involve severe neurodevelopmental manifestations in childhood. This review explores the presentation, genetic basis, and diagnostic evaluation of primary mitochondrial disease. Emphasis is placed on neurodevelopmental findings that may be encountered by a Developmental Pediatrician that should provoke consideration of a mitochondrial disorder. The inheritance patterns and mechanisms by which mutations in genes located in either the nuclear or mitochondrial genomes can cause mitochondrial diseases are discussed. A general overview of the current diagnostic evaluation that can be readily initiated by the Developmental Pediatrician is provided, along with a summary of currently available treatment options.
线粒体疾病是一组日益被认识但广泛具有异质性的多系统疾病，通常在儿童期伴有严重的神经发育表现。本综述探讨了原发性线粒体疾病的表现、遗传基础和诊断评估。重点介绍了发育儿科医生可能遇到的神经发育发现，这些发现应引起对线粒体疾病的考虑。讨论了位于核或线粒体基因组中的基因突变如何导致线粒体疾病的遗传模式和机制。提供了发育儿科医生可以轻松启动的当前诊断评估的概述，以及目前可用的治疗选择的摘要。
