| 茹 凉,沙帕古丽·艾则孜,王亚南,玛依拉·阿不都热依木,严 媚.Duchenne型肌营养不良患儿的临床特征和基因突变分析[J].,2022,(14):2784-2790 |
| Duchenne型肌营养不良患儿的临床特征和基因突变分析 |
| Analysis of Gene Mutation and Clinical Features in Children with Duchenne Muscular Dystrophy |
| 投稿时间：2022-02-27 修订日期：2022-03-23 |
| DOI：10.13241/j.cnki.pmb.2022.14.037 |
| 中文关键词: Duchenne型肌营养不良 肌酸激酶 MLPA检测 基因突变 |
| 英文关键词: Duchenne muscular dystropy Creatine kinase MLPA detection Gene mutation |
| 基金项目:新疆维吾尔自治区自然科学基金项目（2019D01C310） |
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| 中文摘要: |
| 摘要 目的：分析中国新疆地区Duchenne型肌营养不良（DMD）患儿的临床特征以及基因突变类型和分布。方法：回顾性分析2017年1月至2021年10月新疆医科大学第一附属医院收治的85例DMD患儿的病例资料，分析其一般资料、肌酶谱指标水平、核磁及肌电图表现、肌肉活检结果、认知功能差异以及基因变异分布特点。结果：85例DMD患儿中有5例是女性，其中汉族24例（28.24%），少数民族61例（71.76%），10例有家族史，9例有误诊经历。就诊原因以行走困难或运动倒退多见，其次为转氨酶、肌酸激酶异常升高。70例患儿行肌肉核磁检查，其中58例符合DMD，共有60例患儿完善肌电图，其中53例为肌源性损害。38例患儿完善认知功能评价，韦氏儿童智力量表第Ⅳ版总智商（FSIQ）得分45～110分，平均（79.93±18.31），其中10例患儿存在认知功能障碍（FSIQ＜70分），占26.31%。DMD患儿的言语智商（VIQ）、操作智商（PIQ）、FSIQ得分均显著低于正常儿童水平（P＜0.001）。16例患儿进行肌肉活检，15例符合DMD病理变化，1例组织学形态正常。71例患儿行多重连接探针扩增法（MLPA）检测，其中57例阳性，异常检出率为80.28%，其中基因变异类型分别为：50例是缺失，14例是点突变，7例是重复。缺失突变的高发位置是45～49号外显子，在DMD基因的2～9端多出现重复突变。结论：DMD患儿起病隐匿，首发症状多，需要临床各科医生共同协助进行早期诊断、早期治疗和预防。 |
| 英文摘要: |
| ABSTRACT Objective: To analyze the clinical characteristics, types and distribution of gene mutations in children with Duchenne muscular dystrophy (DMD) in Xinjiang, China. Methods: The case data of 85 children with DMD who were treated in the The First Affiliated Hospital of Xinjiang Medical University from January 2017 to October 2021 were analyzed retrospectively. The general data, muscle zymogram indexes levels, magnetic resonance and electromyography, muscle biopsy results, cognitive function differences and the distribution characteristics of gene changes were analyzed. Results: Among the 85 cases of children with DMD, 5 cases were female, included 24 cases of Han nationality (28.24%), and 61 cases of ethnic minorities (71.76%). 10 cases had family history, and 9 cases had misdiagnosis experience. The most common reasons were difficulty walking or backward movement, followed by the abnormal increase of transaminase and creatine kinase. Muscle nuclear magnetic resonance was performed in 70 samples, of which 58 cases were in line with DMD. A total of 60 children improved electromyography, of which 53 were myogenic lesions. The cognitive function of 38 children was evaluated. The total intelligence quotient (FSIQ) score of Wechsler children's intelligence scale version IV was 45 ~ 110, with an average of (79.93±18.31). Among them, 10 children had cognitive impairment (FSIQ < 70), accounting for 26.31%. The scores of verbal IQ (VIQ), operational IQ (PIQ) and FSIQ of children with DMD were significantly lower than those of normal children (P＜0.001). 16 cases underwent muscle biopsy, 15 cases were consistent with the pathological changes of DMD, and 1 case was normal histology. 71 children were tested by multiple ligation probe amplification (MLPA), of which 57 were positive, and the abnormal detection rate was 80.28%. The types of gene variation were: 50 cases were deletion, 14 cases were point mutation, and 7 cases were duplication. The high incidence position of deletion mutation is exon 45-49, and there are many repeated mutations at the 2-9 end of DMD gene. Conclusion: DMD children have hidden onset and many initial symptoms, which need the joint assistance of clinical doctors for early diagnosis, early treatment and prevention. |
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