代谢性疾病相关脑病的诊治  

Diagnosis and treatment of metabolic encephalopathy

作　　者：陈淑丽[1] 何颜霞[1] 

机构地区：[1]深圳市儿童医院,518038

出　　处：《中国小儿急救医学》2016年第11期742-745,共4页Chinese Pediatric Emergency Medicine

摘　　要：脑病是脑功能障碍的总称，由各类代谢紊乱引起的脑功能障碍称之为代谢性脑病，如维生素代谢异常性疾病、叶酸代谢障碍、尿素循环障碍及线粒体疾病等均可引起脑功能障碍。一些先天代谢性疾病相关脑病，可以通过特殊饮食、补充相关辅酶等得到良好控制，因此，在不可逆的脑功能损害发生前，早期诊断和治疗非常重要。癫痫是代谢性脑病的最常见表现。代谢性脑病的病因多源，起病隐匿，诊断代谢性脑病对临床医生是个很大的挑战。对于临床表现为癫痫伴生长发育迟缓、智力障碍和多系统受累的患儿，均应及时进行代谢性疾病的相关检查，如尿有机酸分析、血氨基酸分析、血酰基肉碱分析、脑脊液的相关代谢产物检测以及基因诊断。Encephalopathy is a collection of various brain function disorders. Brain function disorders due to metabolic abnormalities are called metabolic encephalopathy. Various diseases like vitamin metabolic disorder,folinic acid metabolic disorder,urea cycle disorder and mitochondrial disease can result in metabolic encephalopathy. Since quite a number of metabolic encephalopathy can be well controlled after given special diet and supplement of coenzyme,early diagnosis and treatment are of great importance. Epilepsy is the most common manifestation of metabolic encephalopathy. The diagnosis remains a great challenge to clinical physi-cians as the disease onset can be insidious with complicated pathogenesis. In children with epilepsy,growth and development retardation,mental retardation and multisystem involvement,examination of metabolic disor-der like urine organic acid analysis,blood amino acid analysis,blood acylcarnitine analysis,metabolic product analysis of cerebrospinal fluid and genetic diagnosis should be carried out in time.

关 键 词：先天性代谢病 代谢性脑病 癫痫 

分 类 号：R725.8[医药卫生—儿科] R747.9[医药卫生—临床医学]