摘要
目的探讨福建地区短/支链酰基辅酶A脱氢酶缺乏症(SBCADD)临床特征及基因变异特点。方法2016年8月至2022年3月该院新生儿疾病筛查中心采用串联质谱分析技术对111547名新生儿进行遗传代谢病筛查发现C5升高患儿11例,均在该中心进行诊治及随访,其中8例患儿确诊为SBCADD(推测患病率约为1/13943),3例患儿确诊为IVA(推测患病率约为1/37182)。回顾性分析8例SBCADD患儿的临床特征、生化资料及基因测序结果。结果8例SBCADD患儿中男1例,女7例;汉族7例,苗族1例。8例患儿均有异戊酰基肉碱不同程度升高,最高为1.04μmol/L;均有尿2-甲基丁基甘氨酸水平增加。8例患儿生长、发育大致正常,无临床症状。8例患儿中检测到6种ACADSB基因变异。这些患儿均有2个等位基因变异,其中纯合变异3例,复合杂合变异5例。3种基因变异已有文献报道[c.1165A>G(p.M389V)、c.275C>G(p.S92*)和c.923G>A(p.C308Y)],3种变异未见文献报道[c.1232C>T(p.T411M)、c.421A>C(p.1141L)和c.919G>A(p.G307R)]。8例患儿中最常见的基因变异是c.275C>G[56.25%(9/16)]。结论大多数SBCADD患儿是无症状的,但进行临床监测是有必要的,特别是在应激情况下。建议对有症状和无症状的SBCADD患儿均进行纵向临床和生化随访。该研究发现了新的基因变异,扩展了ACADSB基因变异谱。
Objective To investigate the clinical features and gene variation characteristics of short/branched acyl-coA dehydrogenase deficiency(SBCADD)in Fujian province.Methods From August 2016 to March 2022,the Neonatal Disease Screening Center of the hospital used tandem mass spectrometry technology to screen 111547 newborns for genetic metabolic diseases.A total of 11 children with elevated C5 were found in the center for diagnosis,treatment and follow-up,among which eight cases were diagnosed with SBCADD(estimated prevalence rate was 1/13943),and three children were diagnosed with IVA(estimated prevalence was 1/37182).The clinical features,biochemical data and gene sequencing results of the eight children with SBCADD were analyzed retrospectively.Results Among the eight children with SBCADD,one was male and seven were female;seven were Han nationality and one was Miao nationality.Isovaleryl carnitine was increased in all eight cases,the highest was 1.04μmol/L.Urinary 2-methyl-butylglycine levels increased in all eight cases.The growth and development of the eight cases were generally normal with no clinical symptoms.A toatl of six ACADSB gene variants were detected in the eight patients.All of these children had two alleles,of which three were homozygous and five were complex heterozygous.A toatl of three gene variants have been reported in literature[c.1165A>G(p.M389V),c.275C>G(p.S92*)and c.923G>A(p.C308Y)].A toatl of three variants were not reported[c.1232C>T(p.T411M),c.421A>C(p.1141L)and c.919G>A(p.G307R)].The most common gene variation in the eight patients was c.275C>G[56.25%(9/16)].Conclusion Most patients with SBCADD are asymptomatic,but clinical monitoring is necessary,especially in stressful situations.Longitudinal clinical and biochemical follow-up is recommended for both symptomatic and asymptomatic patients with SBCADD.In this study,a new gene variant was found,which has extended the ACADSB gene variant spectrum.
作者
赵培然
林庆颖
陈卫芬
邱小龙
徐两蒲
ZHAO Peiran;LIN Qingying;CHEN Weifen;Qiu Xiaolong;Xu Liangpu(Medical Genetic Diagnosis and Therapy Center,Fujian Maternity and Child Health Hospital,Fuzhou,Fujian 350001,China)
出处
《现代医药卫生》
2023年第14期2386-2390,共5页
Journal of Modern Medicine & Health
