极长链酰基辅酶A脱氢酶缺乏症一例临床及基因检测结果分析  

Analysis of clinical and genetic results in one case of very long chain acyl-CoA dehydrogenase deficiency

作　　者：张英娴[1] 崔岩[1] 陈永兴[1] 卫海燕[1] 

机构地区：[1]郑州市儿童医院内分泌遗传代谢科,450052

出　　处：《中华内分泌代谢杂志》2016年第4期309-311,共3页Chinese Journal of Endocrinology and Metabolism

摘　　要：对郑州市儿童医院内分泌遗传代谢科诊断的1例极长链酰基辅酶A脱氢酶缺乏症（VLCADD）患儿的临床特点进行分析，并采取外周血应用PCR扩增及直接测序技术对患儿及其父母、妹妹的极长链酰基辅酶A脱氢酶（VLCAD）基因20个外显子全部编码区及前后10bp的剪切区分别进行PCR扩增并Sanger测序。结果显示，患儿急性起病，临床表现为反复呕吐、精神差、肝功能、心肌酶激酶异常增高，1岁时曾因为肝损伤被诊断为“Reye综合征”。基因检测结果提示，患者E14c．1349G〉A，p．R450H（杂合）；E15c．1532G〉A，p．R511Q（杂合）；父亲：E15：c．1532G〉A，p．511Q（杂合）；母亲：E14：c．1349G〉A，p．R450H（杂合）；妹妹：E14c．1349G〉A，p．R450H（杂合）；患者的致病基因来源于母亲，其妹妹则为携带者。Clinical characteristics were analyzed in a child with very long chain acyl-CoA dehydrogenase deficiency（VLCADD）. The gene analysis was performed in 20 exon all coding regions and 10 bp shear zone in the very long chain acyl-CoA dehydrogenase （VLCAD） gene of the case and his family members by direct sequencing of PCR- DNA from peripheral blood. The results showed that the patient presented with acute onset, clinical manifestations of repeated vomiting, poor spirit, abnormal liver function, increased myocardial enzyme kinase. At the age of one year old, this child was diagnosed with ＂Reye＇s syndrome＂ for liver injury. Genetic testing results revealed that E14 c. 1349G〉A, p. R450H heterozygous mutation in VLCAD gene was found in this case, his mother, and his younger sister, and E15 c. 1532G〉A, p. R511Q heterozygous mutation was found in this case and his father. The pathogenic genes of the ease are from his mother and the younger sister is a carrier.

关 键 词：极长链酰基辅酶A脱氢酶 极长链酰基辅酶A脱氢酶缺乏症 肌疾病 串联质谱 基因诊断 

分 类 号：R725.9[医药卫生—儿科] R440[医药卫生—临床医学]