Yang Ming-Chun, Chang Mei-Hwei, Chiu Shuenn-Nan, Peng Shinn-Forng, Wu Jia-Feng, Ni Yen-Hsuan, Chen Huey-Ling
Children's Hospital, National Taiwan University, Taipei, Taiwan.
Pediatr Int. 2010 Aug;52(4):569-72. doi: 10.1111/j.1442-200X.2009.03014.x.
The aim of the present study was to determine the rate of early-onset biliary atresia (BA) and its implications, for embryonic-type BA in Taiwan, a high-prevalence area for BA. The relationship between the timing of disease onset and congenital extrahepatic anomalies was also identified.
Medical records of 130 infants born in Taiwan with biliary atresia between January 1996 and December 2005 were reviewed retrospectively. The gold standard for the diagnosis of biliary atresia was intraoperative cholangiography. As well as medical records review, abdominal imaging and echocardiograms were performed to determine other structural anomalies. Early-onset BA was defined as acholic stool and cholestatic jaundice observed before 2 weeks of age.
On review of onset of acholic stool and cholestatic jaundice before 2 weeks of age, 31 patients (23.8%) were defined as having early-onset BA. Twenty patients (15.4%) had major congenital extrahepatic anomalies. One (0.7%) had biliary atresia splenic malformation syndrome (BASM). Both early-onset and late-onset BA may be associated with other structural anomalies. Patients with early-onset BA had a higher probability of having major extrahepatic anomaly (9/31 vs 11/99, P = 0.046). Situs anomalies accompanying major gastrointestinal (GI) tract anomalies occurred only in early-onset BA patients.
After comprehensively investigating the timing of onset and associated congenital extrahepatic anomalies in BA patients in Taiwan, only one BASM with double spleen was detected. A total of 23.8% of patients had early-onset BA, and this group of patients is prone to extrahepatic anomalies. Situs anomalies accompanying major GI tract anomaly may be indicative of embryonic-type early-onset BA.
本研究旨在确定台湾地区（胆道闭锁高发地区）早发型胆道闭锁（BA）的发病率及其对胚胎型BA的影响。同时还确定了疾病发病时间与先天性肝外异常之间的关系。
回顾性分析1996年1月至2005年12月在台湾出生的130例胆道闭锁婴儿的病历。胆道闭锁诊断的金标准是术中胆管造影。除了病历回顾外，还进行了腹部影像学检查和超声心动图检查以确定其他结构异常。早发型BA定义为在2周龄前出现无胆汁粪便和胆汁淤积性黄疸。
在回顾2周龄前无胆汁粪便和胆汁淤积性黄疸的发病情况时，31例患者（23.8%）被定义为早发型BA。20例患者（15.4%）有主要的先天性肝外异常。1例（0.7%）患有胆道闭锁脾畸形综合征（BASM）。早发型和晚发型BA均可能与其他结构异常有关。早发型BA患者有更高的概率出现主要肝外异常（9/31 vs 11/99，P = 0.046）。主要胃肠道（GI）道异常伴有的内脏反位仅发生在早发型BA患者中。
在全面调查台湾地区BA患者的发病时间和相关先天性肝外异常后，仅检测到1例伴有双脾的BASM。共有23.8%的患者为早发型BA，且该组患者易出现肝外异常。主要GI道异常伴有的内脏反位可能提示胚胎型早发型BA。
