导致神经肌肉病变及呼吸衰竭的遗传代谢病  

Inborn errors of metabolism associated with neuropathies,myopathies or respiratory failure

作　　者：高恒妙[1] 钱素云[1] 

机构地区：[1]首都医科大学附属北京儿童医院,北京100045

出　　处：《中国实用儿科杂志》2015年第8期582-587,共6页Chinese Journal of Practical Pediatrics

摘　　要：遗传代谢病常表现为多系统受累。部分可导致周围神经病、肌病或呼吸衰竭,多为其临床表现之一,但有时可能是主要甚至惟一的临床表现。由于儿科医生不熟悉遗传代谢病的临床表现和诊断,此类患儿常被误诊或延迟诊断。及时进行相关的代谢检查,是避免误诊或延迟诊断的关键。本文重点介绍可导致周围神经疾病、肌病和呼吸衰竭的遗传代谢病及其主要临床特征和诊断线索。Inborn errors of metabolism （IEM） usually involve muhisystem. Peripheral neuropathies, myopathies or respiratory failure may be caused by some IEM and they commonly present as one of the clinical manifestations, but sometimes may present as the main or even the sole manifestation of IEM. Misdiagnosis or delayed diagnosis is common because the pediatricians are unfamiliar with the clinical manifestation and diagnosis of IEM. The key to avoiding misdiagnosis or delayed diagnosis is to carry out laboratory evaluations that are relevant to identifying the IEM timely. In this paper, the IEM associated with neuropathies, myopathies or respiratory failure is reviewed briefly with emphases on the clinical features and diagnostic clues.

关 键 词：遗传代谢病 周围神经疾病 肌病 呼吸衰竭 

分 类 号：R72[医药卫生—儿科]