摘要
戊二酸尿症Ⅱ型是一种影响脂肪酸、氨基酸和胆碱代谢的常染色体隐性遗传病,是引起脂质沉积病的重要病因。该病儿童少见,临床医生认识不足,易误诊、漏诊。伴腹痛、脊髓损伤的晚发型戊二酸尿症Ⅱ型更为罕见。本文对1例伴腹痛、脊髓损伤的晚发型戊二酸尿症Ⅱ型合并家族性高胆固醇血症的患儿进行回顾性分析。早期进行血脂、尿有机酸和基因检测对患儿的诊治及提高生活质量有重要意义。
Glutaric aciduria type Ⅱ is an autosomal recessive disease that affects the metabolism of fatty acids,amino acids and choline,and is an important molecular cause of lipid deposition disease.Children with this disease are rare,and clinicians lack awareness,easy to misdiagnose or miss diagnosis.Late-onset glutaruria type Ⅱ with abdominal pain and spinal cord injury is rarer.This case report describes a retrospective analysis of a child with late-onset glutaric aciduria type Ⅱ and familial hypercholesterolemia with abdominal pain and spinal cord injury.Blood lipid,urine organic acid test and genetic testing early are of great significance for the diagnosis and treatment of children and improve their quality of life.
作者
徐刚
赵澎
蔡春泉
XU Gang;ZHAO Peng;CAI Chun-quan(Rehabilitation Branch,Tianjin Children’Hospital,Tianjin 300400,China;Department of Neurosurgery,Tianjin Children’Hospital,Tianjin 300400,China)
出处
《天津医药》
CAS
北大核心
2020年第9期891-893,I0002,共4页
Tianjin Medical Journal
关键词
多酰基辅酶A脱氢酶缺乏
脊髓损伤
高胆固醇血症Ⅱ型
腹痛
受体
LDL
电子转运黄素蛋白脱氢酶
multiple acyl coenzyme A dehydrogenase deficiency
spinal cord injuries
hyperlipoproteinemia typeⅡ
abdominal pain
receptors,LDL
electron transfer flavoprotein dehydrogenase
