被误诊为癫痫的先天性高胰岛素血症  

Congenital hyperinsulinemia misdiagnosed as epilepsy

作　　者：张亚男[1] 张会丰[1] ZHANG Ya-nan;ZHANG Hui-feng(Department of Endocrinology,Genetics and Metabolism,Second Hospital of Hebei Medical University,Shijiazhuang050000,China)

机构地区：[1]河北医科大学第二医院儿科,河北石家庄050000

出　　处：《中国实用儿科杂志》2020年第7期514-517,共4页Chinese Journal of Practical Pediatrics

摘　　要：低血糖惊厥常为先天性高胰岛素血症首发临床表现,常被误诊为癫痫进行治疗。患儿反复持续低血糖发作会造成大脑不可逆损伤,导致继发性癫痫和智力发育落后等。其生化表现为与低血糖不相符、过高的胰岛素分泌,约50%患儿可明确其致病基因。二氮嗪为先天性高胰岛素血症的一线用药,药物治疗效果不佳反复低血糖发作患者可考虑手术治疗。Hypoglycemic convulsion is often the first clinical manifestation of congenital hyperinsulinemia which is often misdiagnosed as epilepsy.Recurrent persistent hypoglycemia may result in severe neurological sequelae,such as secondary epilepsy or developmental delay.Diagnosis is based on the finding of inappropriate relative hyperinsulinemia in the context of hypoglycemia.A genetic diagnosis was made for only about 50%patients.Euglycemia can be achieved by the first line treatment-diazoxide in most patient.Partial pancreatectomy should be considered when blood glucose cannot be stabilized by nutritional support and diazoxide.

关 键 词：先天性高胰岛素血症 癫痫 二氮嗪 

分 类 号：R72[医药卫生—儿科]