目的 探讨Duchenne型肌营养不良（DMD）患儿临床表型与基因型的特点。方法 收集2014年1月至2020年6月经临床及基因检查确诊为DMD的171例患儿的临床资料,对其临床表现和基因变异结果进行分析。结果 171例患儿中男165、女6例;中位年龄4.1（1.7~7.0）岁,其中<1岁21例,~3岁41例,~7岁65例,~13岁44例。以运动发育落后、肌酶增高和肢体无力为主要表现。婴幼儿主要因肌酶（包括肌酸激酶、肌酸激酶同工酶、乳酸脱氢酶）升高首次至神经内科就诊。与幼儿组比较,婴儿组因肌酶升高首次至神经内科就诊比例较高,因运动落后就诊比例较低,差异均有统计学意义（P<0.05）。激素治疗可使大部分患儿病情得到改善。通过高通量测序技术发现,DMD基因多为大缺失（111例,64.9%）,大重复变异26例（15.2%）,点变异34例（19.9%）。变异可发生在基因的任何位置,但有两个缺失的热点区域,即位于基因中央区外显子45~52区（76例,占大缺失变异68.5%）以及位于5’端外显子2~28区（21例,占大缺失变异的18.9%）。结论 肌酶增高和肢体无力为DMD患儿的主要临床表现,发现异常者应及时行基因检测。了解DMD临床表现及基因型特点对其预防、管理和治疗至关重要。

Objective To investigate the characteristics of clinical phenotype and genotype in children with Duchenne muscular dystrophy (DMD). Methods The clinical data of 171 children diagnosed with DMD by clinical and genetic tests from January 2014 to June 2020 were collected, and the clinical manifestations and genetic variation results were analyzed. Results The median age of 171 DMD children (165 boys and 6 girls) was 4.1 (1.7-7.0) years. Among them, 21 children were younger than 1 year old, 41 children were 1-3 years old, 65 children were 3-7 years old, and 44 children were 7-13 years old. The main clinical manifestations of 171 children were motor development retardation, increased muscle enzymes and limb weakness. The first visit to the neurology department of the infants and young children was mainly due to the elevated muscle enzymes (including creatine kinase, creatine kinase isoenzyme and lactate dehydrogenase). Compared with the young children group, the infant group had a higher proportion of first visits to the neurology department due to increased muscle enzymes, and a lower proportion of visits due to motor development retardation, with statistically significant differences (P<0.05). Hormone therapy improved the condition of most children. DMD genes were mostly largely deletions (111 cases, 64.9%) by high-throughput sequencing techniques. There were 26 cases (15.2%) with large duplication variations and 34 cases (19.9%) with point variations. The variation could occur anywhere in the gene, but there were two deletion hotspots, which were located in the central exon 45-52 region (76 cases, accounting for 68.5% of the large deletion variations) and in the exon 2-28 region of 5' end (21 cases, accounting for 18.9% of the large deletion variations). Conclusions Increased muscle enzymes and limb weakness are the main clinical manifestations of DMD children, and genetic testing should be conducted in time if abnormalities are found. Understanding the clinical manifestations and genotype characteristics of DMD is very important for its prevention, management and treatment.