摘要
目的探讨杜氏肌营养不良(DMD)的临床特点及基因突变类型和分布。方法回顾分析2015年8月至2017年4月收治的30例DMD患儿家系的临床及基因检测资料。结果 30例DMD先证者均为男性;起病时的中位年龄4岁(0.17~9.5岁),确诊中位年龄5.2岁(0.25~10岁);4例(13.3%)有家族史,7例(23.3%)曾被误诊。所有患儿均起病隐匿;肌酸激酶显著升高,为正常上限的18.6~230.0倍。9例行肌电图检查,均提示肌源性损害;1例行肌活检,病理符合DMD改变。30例患儿均行DMD基因检测,异常检出率100%;其中17例(56.7%)为基因缺失突变,9例(30.0%)点突变,4例(13.3%)重复突变;缺失突变以48、49、50号外显子最常见;5例点突变未见文献报道;重复突变均为外显子大片段重复,重复区域包括7~19个外显子不等。30例DMD先证者家系中的49例家庭成员DMD基因检测结果显示,5例基因检测结果与先证者完全相同,也为DMD患者,包括有外公1例,哥哥1例,弟弟3例;21例家庭成员携带与先证者相同的突变基因,为携带者,包括母亲19例和姐姐2例。结论对不明原因肌酶谱升高的男性患儿,应高度警惕DMD,及早行肌电图、肌活检、基因检测确诊。
Objective To explore the clinical characteristics,types,and distribution of gene mutation in Duchenne muscular dystrophy(DMD).Method The clinical and gene testing data of DMD in 30 children from August 2015 to April 2017 were retrospectively analyzed.Results 30 cases of DMD precursor were all male,and the median age at the onset was 4 years(0.17~9.5 years),and the median age at diagnosis was 5.2 years(0.25~10 years).Among them,4 cases(13.3%)had family history,and 7 cases(23.3%)had been misdiagnosed.All the children had insidious onset and markedly elevated creatine kinase(18.6~230.0 times the upper limit of normal).Electromyography was performed in 9 cases,suggesting myogenic damage.Muscle biopsy was performed in one case,and the pathological changes were consistent with DMD.DMD gene was detected in all 30 cases,and the rate of abnormal detection was 100%.Gene deletion mutations were found in 17 cases(56.7%),point mutations in 9 cases(30%),and duplications in 4 cases(13.3%).Deletion mutations were most common in exons 48,49,and 50.The point mutations in 5 cases have not been reported in literature.Duplications were seen in large fragment of exon,including 7~19 exons.DMD gene detection was also performed in 49 family members.Among them,1 grandfather,1 elder brother and 3 younger brothers had the same results as propositus who were confirmed DMD.Furthermore,21 family members carried the same mutation gene as the propositus,including 19 mothers and 2 sisters.Conclusion For the male children with unexplained significantly elevation of muscle enzymes,clinicians should be highly vigilant about possibility of DMD,and electromyography,muscle biopsy and gene diagnosis should be detected early.
作者
杨莹
侯凌
刘艳
YANG Ying;HOU Ling;LIU Yan(Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,Hubei,China;Department of Pediatrics,Maternal and Child Health Hospital,Xiamen 361000,Fujian,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2018年第4期241-244,共4页
Journal of Clinical Pediatrics
