肺动脉闭锁的遗传学研究  

Genetic research of pulmonary atresia

作　　者：龚立[1] 史嘉玮[1] 董念国[1] 

机构地区：[1]华中科技大学附属协和医院心外科,武汉430022

出　　处：《中华实用儿科临床杂志》2013年第1期29-31,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的探讨肺动脉闭锁（PA）患者的遗传学缺陷。方法选取近1年收治的23例PA患儿为研究对象。男15例，女8例；年龄2d～10岁。其中3例为室间隔完整型，20例合并VSD，3例肺动脉总干缺如，20例合并PDA，6例合并大的主一肺动脉侧支血管（MAPCAs），3例合并右位主动脉弓，2例合并心外畸形，表现为面部畸形，1例合并迷走右锁骨下动脉，1例合并支气管型支气管。对患儿的染色体情况进行常规分析。阴性者采用荧光原位杂交技术（FISH）检测是否存在22q11．2微缺失。结果发现1例合并21-三体综合征，3例合并22q11．2微缺失综合征。在合并22q11．2微缺失病例中，1例为室间隔完整型，2例合并VSD。其余19例未发现22q11．2微缺失。结论21-三体综合征及22q11．2微缺失综合征均在PA的发病机制中起重要作用。TBX1探针可用来检测22q11．2微缺失。PA并迷走锁骨下动脉、大的MAPCAs、严重的肺动脉发育不良时应高度怀疑22q11．2微缺失综合征的存在。Objective To explore the genetic defects in patients with pulmonary atresia （PA）. Methods Twenty-three patients with PA were studied from recent 1 year. There were 15 boys and 8 girls, aged 2 days to 10 years. Among them,there were 3 cases with complete ventricle septum,20 cases with VSD, 3 cases without main pulmonary trunk ,20 cases with PDA,6 cases with integrated major aorto-pulmonary collateral arteries（MAPCAs） ,3 cases with in- tegrated right aortic arch,2 cases with integrated extra-cardiac abnormality with the manifestation of facial abnormality, 1 case with integrated aberrant right subclavian artery, and 1 case with integrated tracheal bronchus. The chromosomes of the children were routinely analyzed. Negative chromosomes were examined to identify the 22ql 1.2 microdeletion by fluorescence in situ hybridization （FISH） test. Results One case of trisomy syndrome was found. 22q11.2 microdeletion was found in 3 cases. Among 22q11 microdeletion cases, 1 case was intact ventricular septum ,2 cases were integrated VSD. 22q11.2 microdeletion was not found in the rest 19 cases. Conclusions Twenty-one trisomy syndrome and Del 22q11. 2 syndrome may play an important role in the pathogenesis of PA. TBX1 probe can be used to examine 22q11.2 microdeletion. Del 22q11.2 syndrome was suspected in cases of incorporating aberrant subclavian artery, MAPCAs and severe poor development of pulmonary artery.

关 键 词：肺动脉闭锁 21一三体综合征 22q11 2微缺失综合征 

分 类 号：R72[医药卫生—儿科]