摘要
目的回顾性分析5例确诊戊二酸血症Ⅰ型病儿临床特点及戊二酰辅酶A脱氢酶(GCDH)基因突变情况,为临床诊治提供参考依据及产前诊断提供借鉴。方法回顾性分析山西省儿童医院2019年1月至2022年12月收治及随访的5例戊二酸血症Ⅰ型病儿临床资料及基因检测结果。结果5例病儿中男4例,女1例,5例病儿就诊年龄分别为8个月26 d、3个月24 d、4个月8 d、10个月25 d、1个月5 d。5例病儿的临床表型各异。3例经新生儿筛查确诊,2例因运动发育落后经遗传代谢病检测确诊,其中1例以抽搐为首发症状,2例出现运动发育落后且1例伴有运动发育倒退。5例病儿血戊二酰肉碱及比值均升高、尿戊二酸水平均增高。基因检测证实5例病儿均为复合杂合突变,以错义突变为主。结论5例病儿中有3例病儿是通过新生儿疾病筛查发现的,新生儿串联质谱筛查可以对于戊二酸血症病儿的早期诊断、早期治疗及预后具有重要的意义;戊二酸血症Ⅰ型病儿临床表现具有明显异质性,对临床可疑的病儿可进行血串联质谱检测、尿气相色谱分析及基因检测,以便进行早期严格的干预治疗及饮食管理,从而改善预后;此外,该研究发现了1个新的GCDH基因突变位点,丰富了GCDH基因的突变谱。
Objective To retrospectively analyze the clinical characteristics and GCDH gene mutations in 5 cases of diagnosis of glutaric acidemia type Ⅰ,and providing reference for clinical diagnosis and treatment and prenatal diagnosis.Methods Retrospective analysis of clinical data and genetic testing results of five children with glutaric acidemia type Ⅰ admitted and followed up in Shanxi Children's Hospital from January 2019 to December2022.Results Among the 5 patients,4 were male and 1 was female,and 5 patients were diagnosed on 8 month 26 days,3 month 24 days,4 month 8 days,10 month 25 days,and 1 month 5 days.The clinical surface shapes of 5 patients were different.Three cases were confirmed by neonatal screening,and 2 cases were confirmed by genetic metabolic disease due to motor retardation.Among them,one of the first symptoms of convulsions,2 cases developed backward and 1 case was accompanied by motor regression.The Blood glutaryl carnitine and ratio of 5 patients were elevated,and urinary glutaric acid levels were increased.The genetic testing confirmed that all five patients were compound and heterozygous mutations,mainly missense mutations.Conclusions Of the five patients,3 patients were discovered by neonatal disease screening.Neonatal tandem mass spectrometry screening can be of great significance for early diagnosis,early treatment,and prognosis of children with glutaric acidemia;The clinical presentation of glutaric acidemia type Ⅰ patients is markedly heterogeneous.Patients with suspicious clinical children can perform blood tandem mass spectrometry,urine gas chromatography and genetic testing in order to perform early strict intervention therapy and dietary management,thereby improving the prognosis.In addition,one new GCDH gene mutation site was identified in this study,which enriched the mutation spectrum of GCDH gene.
作者
范馨
张改秀
朱彤
纪可佳
赵润涵
王蕾
王丽花
FAN Xin;ZHANG Gaixiu;ZHU Tong;JI Kejia;ZHAO Runhan;WANG Lei;WANG Lihua(Pediatrics and Education and Research Office of Shanxi Medical University,Taiyuan,Shanxi 030001,China;Shanxi Provincial Children's Hospital Endocrine and Genetic Metabolism Sec-tion,Taiyuan,Shanxi 030001,China)
出处
《安徽医药》
CAS
2024年第8期1629-1632,共4页
Anhui Medical and Pharmaceutical Journal
