症状前期进行性肌营养不良患儿24例病例系列报告  

24 children with early stage progressive muscular dystrophy:A case series report

作　　者：曾兴颖 吴华平[1] 曾苗 虞雄鹰[1] 刘志强[3] ZENG Xingying;WU Huaping;ZENG Miao;YU Xiongying;LIU Zhiqiang(Department of Neurology,Jiangxi Children's Hospital,Nanchang 330006,China;Central Laboratory,Jiangxi Children's Hospital,Nanchang 330006,China;Department of Laboratory,Jiangxi Children's Hospital,Nanchang 330006,China)

机构地区：[1]江西省儿童医院神经内科,南昌330006 [2]江西省儿童医院中心实验室,南昌330006 [3]江西省儿童医院检验科,南昌330006

出　　处：《中国循证儿科杂志》2021年第5期391-394,共4页Chinese Journal of Evidence Based Pediatrics

基　　金：江西省卫生健康委员会科技计划项目:20175491、202130880。

摘　　要：背景进行性肌营养不良(PMD)中Duchenne型肌营养不良(DMD)和Becker型肌营养不良(BMD)的临床表现、治疗和预后差异明显,目前国内外对症状前期PMD患儿的诊断尚无共识。目的探讨婴幼儿时期症状前期PMD患儿的临床特征和实验室检查特点,并探讨血清肌酶水平在DMD和BMD分型诊断中的价值。设计病例系列报告。方法收集2016年1月至2020年7月江西省儿童医院确诊的症状前期PMD患儿,分析临床特征和实验室检查特点,并以基因检测结果为诊断标准分为DMD组和BMD组,血清肌酶通过ROC曲线分析以约登指数最大值时的取值作为诊断界值,比较不同肌酶的诊断准确性。主要结局指标PMD患儿的临床表现、基因结果、血清酶水平(AST、ALT、LTH、CK、CK-MB)。结果24例PMD患儿纳入分析,其中DMD组18例,BMD组6例。22例(91.7%)因发现转氨酶升高就诊,2例(8.3%)因亲戚确诊前来就医。PMD患儿CK-MB、CK、LDH、AST和ALT水平均明显升高,DMD组均高于BMD组(除AST外,P均<0.05)。当ALT>224.5 U·L^(-1)、CK>11069 IU·L^(-1)、CK-Mb>204 IU·L^(-1)、LDH>1349.5 IU·L^(-1)时为DMD的可能性更高,尤其是LDH>1349.5 IU·L^(-1)具有高度特异性。结论血清肌酶水平增高为PMD患儿症状前期的主要表现。LDH>1349.5 IU·L^(-1)对诊断DMD具有高度特异性。Background There are significant differences in the prognosis,treatment and follow-up of Duchenne muscular dystrophy(DMD)and Becker muscular dystrophy(BMD).At present,there is still no consensus on the diagnosis of presymptomatic progressive muscular dystrophy(PMD)at home and abroad.Objective To study the clinical and test results of pre symptomatic PMD in infants and analyze the accuracy of serum muscle enzyme level in distinguishing DMD and BMD.Design Case series report.Methods Children diagnosed with presymptomatic PMD at Jiangxi Children's Hospital between January 2016 to July 2020 were included in the study to have their clinical and test results of presymptomatic PMD analyzed.The DMD and BMD were distinguished by gene results.The maximum value of yoden index was taken as the diagnostic standard by ROC curve analysis.The consistency and accuracy of gene diagnosis and muscle enzyme diagnosis were compared.Main outcome measures Clinical manifestations,gene results and serum enzyme(AST,ALT,LDH,CK,CK-MB).Results The study collected 24 children with 18 cases of DMD and 6 cases of BMD.In total,91.7%(22/24)came to hospital because of elevated aminotransferase and 8.3%(2/24)came to hospital because one of their relatives was diagnosed as PMD.There was a significant increase in CK-MB,CK,LDH,AST and ALT in PMD children with higher levels in DMD group compared to those of BMD group(P<0.05,except for AST).When ALT>224.5 U·L^(-1)、CK>11069 IU·L^(-1)、CK-Mb>204 IU·L^(-1)、LDH>1349.5 IU·L^(-1),it is more likely to be DMD especially with the high specificity of LDH>1349.5 IU·L^(-1).Conclusion Higher level of muscle enzyme than healthy people is the main manifestation in the early stage of symptoms in PMD children.LDH>1349.5 IU·L^(-1)is highly specific for the diagnosis of DMD.

关 键 词：DUCHENNE肌营养不良 Becker肌营养不良 抗肌萎缩蛋白 血清肌酶 基因诊断 

分 类 号：R746.2[医药卫生—神经病学与精神病学]