新生儿VACTERL联合征33例临床特点及预后分析  

Clinical characteristics and prognosis of neonatal VACTERL association in 33 cases

作　　者：吴秋萍[1] 吴怡翔 梁忠杰[2] 李昌崇[1] 陈尚勤[2] 

机构地区：[1]温州医科大学附属育英儿童医院儿童呼吸科,325027 [2]温州医科大学附属育英儿童医院新生儿科,325027

出　　处：《中华新生儿科杂志（中英文）》2017年第4期278-282,共5页Chinese Journal of Neonatology

摘　　要：目的 探讨新生儿VACTERL联合征的临床特点、治疗及预后情况.方法 收集2010年1月至2015年12月本院新生儿科收治的VACTERL联合征患儿临床资料进行回顾性分析.结果 共纳入VACTERL联合征患儿33例,其中男23例,女10例;足月儿17例,早产儿15例,过期产1例;入院日龄1 ～24 d.最常见畸形为心脏畸形（cardiac defects,C） 27例（81.8％）,其次为肛门闭锁/直肠肛门畸形（anal atresia,A）25例（75.8％）,肾脏异常（renal dysplasia,R）24例（72.7％）,肢体/径向畸形（limb/radial defects,L）20例（60.6％）,气管食管畸形（tracheoesophageal fistula with esophagealatresia,TEF）8例（24.2％）,脊椎异常（vertebral defects,V）3例（9.1％）.11例（33.3％）合并其他畸形.33例患儿中24例合并3种畸形,9例合并4种畸形.最常见的畸形组合为ACR（8例）.20例患儿行染色体核型检测未见异常,其中2例患儿行基因微阵列检测也未发现异常.16例患儿于新生儿期行手术治疗,好转出院13例;17例未行手术治疗,好转出院1例.14例好转出院患儿1岁时电话随访,13例预后良好,1例死亡.结论 VACTERL联合征是临床罕见的非随机组合多发畸形,在新生儿期及早发现并相应手术矫正治疗后,生存预后良好.临床医护人员应加强对各类畸形的检查及必要的染色体基因检测.Objective To study the clinical characteristics,treatment and prognosis of neonatal VACTERL association.Method The clinical data of newborns diagnosed with VACTERL association from January 2010 to December 2015 were collected and retrospectively analyzed.Result A total of 33 patients diagnosed with VACTERL association were included,including 23 males and 10 females.Among them,17 cases were term infants,15 cases premature infants and 1 case of overdue birth,with an admission age of 1 to 24 days.The most common deformities were cardiac anomalies （C） in 27 cases （81.8%）,followed by anal atresia/anorectal malformation （A） in 25 cases （75.8%）,renal deformity （R） in 24 cases （72.7%）,limb abnormalities （L） in 20 cases （60.6%）,Tracheoesophageal fistula （TEF） in 8 cases （24.2%） and vertebral abnormalities （V） in 3 cases （9.1%）.11 cases （33.3%） had other deformities.Among these 33 patients,24 cases had 3 types of malformations and 9 cases had 4 types of malformations.The most common combination was ACR （n =8）.20 patients had no abnormalites on chromosome karyotype test including 2 patients had normal gene microarray results.16 patients received surgical treatment during neonatal period and 13 of them recovered and discharged.Among the other 17 cases received no surgery,only 1 patient improved and discharged.A telephone follow-up was proceeded in 14 discharged cases at 1 year old.Among them,13 cases had good prognosis,however,the remaining one was dead.Conclusion VACTERL association is a rare non-random combination of multiple malformations.The early discovery and appropriately treatment after diagnosis will improve the prognosis and prevent death.Doctors should reinforce the ability to detect various types of deformities and examine the chromosome and gene properly.

关 键 词：畸形 多发性 预后 VACTERL联合征 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]