摘要目的 总结多系统平滑肌功能障碍综合征的临床特点及其诊断.方法 报道浙江大学医学院附属儿童医院2016年7月收治的1例多系统平滑肌功能障碍综合征的病例资料,以“多系统平滑肌功能障碍综合征”“Multisystemic smooth muscle dysfunction syndrome" "ACTA2”为关键词,经万方数据库、中国期刊全文数据库、中国维普数据库以及PubMed检索病进行文献分析,检索的时间为1980至2016年11月.结果 患儿女,1岁8月龄,反复咳嗽喘息1年余,存在瞳孔散大固定,动脉导管未闭,肺动脉高压,慢性肺部疾病,脑血管异常,经肺动脉高压相关基因检测,分析发现存在ACTA2基因c.536C＞ T(p.R179H)杂合变异,患儿父母未检出携带上述变异.共检索到符合条件的外文文献11篇,未检索到中文文献,共报道25例多系统平滑肌功能障碍综合征患儿,加上本例共26例,文献报道病例的最小的年龄为11月龄,最大的27岁,女17例,男8例.其临床共同特点为:瞳孔散大(25例),动脉导管未闭(25例),脑血管病变(20例),肺动脉高压(9例),慢性肺部疾病(3例)等.结论 多系统平滑肌功能障碍综合征为一种罕见的基因变异疾病,主要为ACTA2基因c.536C＞T(p.R179H)杂合变异,对于出生后不久就同时出现瞳孔固定散大和动脉导管未闭的患儿可以行基因测定来明确诊断.

abstractsObjective To analyze the clinical characteristics and diagnosis of multisystemic smooth muscle dysfunction syndrome (MSMDS).Method Clinical data of a case diagnosed as MSMDS and hospitalized in our hospital in July 2016 was retrospectively analyzed.Literature search was performed at databases of PubMed,Wanfang,China National Knowledge Infrastructure and VIP with the key words "multisystemic smooth muscle dysfunction syndrome ACTA2".The literature retrieval was confined from January 1980 to November 2016.The characteristics of MSMDS were summarized through review of literature.Result A girl aged 1.6 years had recurrent cough and wheeze for more than 1 year,complicated with congenital fixed dilated pupils,patent ductus arteriosus,pulmonary hypertension,chronic lung disease,and cerebrovascular abnormalities.We had done gene analysis for the patient and found ACTA2 c.536C ＞ T (p.R179H) heterozygous mutations,but her parents were normal.Totally 11 reports were retrieved from foreign language literature and no report from Chinese literature could be found;the retrieved articles reported a total of 25 cases of multiple system smooth muscle dysfunction syndrome.The minimum age was 11 months,17 cases were female,8 were male.The clinical common characteristic is congenital fixed dilated pupils,patent ductus arteriosus,cerebrovascular disease,pulmonary hypertension,chronic lung disease,and so on.Conclusion Genetic testing for ACTA2 gene mutations should be considered in infants presenting with congenital fixed dilated pupils and patent ductus arteriosus.