摘要
目的分析新生儿杜氏肌营养不良(DMD)的临床特点、基因变异及病情进展过程。方法收集2012年12月至2019年4月郑州大学第三附属医院收治的7例DMD新生儿的临床资料,总结其临床特点、基因检测结果,并随访疾病进展情况。结果7例患儿均为男性,均无典型肌无力和肌萎缩临床表现。所有患儿入院后均发现肌酸激酶(CK)明显升高,部分患儿氨基转移酶升高,以CK异常升高为著,CK均>1000 U·L^(-1),治疗后CK、氨基转移酶下降不明显。7例患儿基因检测结果显示,6例为DMD基因外显子缺失变异,1例为DMD基因外显子重复变异。随访结果显示,1例失访,3例于婴幼儿期逐渐出现肌营养不良临床表现,余3例患儿2岁前运动发育与同龄儿无明显差异。结论DMD在新生儿期临床表现隐匿,基因检测有助于早期诊断,可避免不必要的有创检查。此外,新生儿期早期诊断有助于精准遗传咨询及早期综合防治。
Objective To analyze the clinical features,gene mutations and disease progression of neonates with Duchenne muscular dystrophy(DMD).Methods The clinical data of 7 neonates with DMD from December 2012 to April 2019 admitted to the Third Affiliated Hospital of Zhengzhou University were collected.Their clinical features and gene test results were summarized,and disease progression was followed up.Results 7 cases were all male,and there were no typical clinical manifestations of myasthenia and muscular atrophy.Creatine kinase(CK)increased significantly in the 7 neonates,and transaminase increased in some neonates.Especially CK increased abnormally,and the levels of CK were all>1000 U·L^(-1).CK and transaminase did not decrease significantly after treatment.The results of gene detection showed that 6 cases were exon deletion mutations of DMD gene and 1 case was exon duplication mutation of DMD gene.Follow-up results showed that 1 case was lost,and 3 cases gradually developed clinical manifestations of muscular dystrophy in infancy,and the other 3 children had no significant differences in motor development before 2 years old compared with their peers.Conclusion The clinical manifestations of DMD are not typical in the neonatal period.Gene detection is helpful for early diagnosis,which can avoid unnecessary invasive examination.Moreover,early explicit diagnosis in neonatal period is the important tool for accurate genetic counseling and early comprehensive prevention and treatment.
作者
付芬芬
尚利宏
FU Fenfen;SHANG Lihong(Department of Neonatology,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《河南医学研究》
CAS
2021年第13期2357-2359,共3页
Henan Medical Research
关键词
杜氏肌营养不良
新生儿
临床特点
基因突变
Duchenne muscular dystrophy
neonate
clinical feature
gene mutation
