胆道闭锁伴发畸形多中心分析

Incidence of congenital anomalies associated with biliary atresia in China： a multi-center retrospective study

目的研究胆道闭锁伴发其他先天性畸形的发病情况，并对照国外文献报告胆道闭锁伴发畸形及多脾畸形综合症的资料情况进行比对分析。方法临床资料来源于天津、北京、武汉、广州、深圳等五家医学中心；收集五家单位从2009年10月至2014年10月期间经手术探查证实为胆道闭锁患儿资料。同时检索国外文献，总结其伴发畸形情况，其中包括：肝脾融合异常或多脾畸形，腹腔内脏转位，肠旋转不良，腹腔血管畸形，先天性心脏病等，比对其临床资料差异性。结果本研究共收集经手术证实诊断的851例胆道闭锁患儿临床资料，男446例，女405例，其中65例患儿（7．64％）伴发畸形，包括单发和多发畸形。腹腔内畸形包括：脾脏畸形4例（肝脾融合异常1例），腹腔内脏转位2例，肠旋转不良3例，肠闭锁2例，无肛畸形1例；心脏畸形包括：房间隔缺损29例，动脉导管未闭4例，肺动脉狭窄1例，其他心血管畸形4例（包括卵圆孔未闭、冠状静脉窦扩张、左位上腔静脉、法乐四联症）；泌尿系统畸形包括：肾盂扩张／肾积水3例，尿道下裂1例，其他并发的发育异常有鞘膜积液、斜疝、脐疝等；有13例患儿同时伴发一个以上多重畸形。结论本组统计资料显示胆道闭锁的就诊情况为男孩略多于女孩，胆道闭锁伴发肝外畸形以心脏畸形最常见，其次为腹腔内畸形，同时伴发两种以上畸形并非罕见；与国外报道的多脾畸形最为多见情况有所不同。

Objective Biliary atresia （BA） associated with other congenital malformations is rare. The aim of this study was to analyze the incidence of associated malformations in BA infants at five centers in China. Methods For this multi-center retrospective study, the clinical data were collected from five centers in China between 2009 and 2014. BA patients with other congenital malformations were diagnosed through operative exploration and liver biopsy. Congenital malformations included polysplenia, situs inversus, intestinal malrotation, abdominal vascular anomaly or congenital heart disease. Results Among 851 BA patients, there were 446 males and 405 females. And 65 （7. 64%） of them had associated congenital abnormalities. Intra-abdominal anomalies included polysplenia （n = 4）, abnormal fusion between liver ＆ spleen （n = 1）, situs inversus （n = 2）, intestinal malrotation （n = 3）, patent foramen ovale （n = 29）, patent ductus arteriosus （n = 4）, other cardiac malformations （n = 4, coronary sinus dilation, left superior vena cava, Tetralogy of Fallot） and multiple malformations （n = 13）. Conclusions Associated congenital anomalies are common in BA patients and cardiovascular system is frequently involved. The incidence of polysplenia is lower than that in international reports.