Syndromic biliary atresia: Characterisation and long-term outcomes

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Genetics

Background:

• Biliary atresia (BA) is often associated with other congenital anomalies.
• Biliary Atresia Splenic Malformation syndrome (BASM) occurs in 10-20% of infants with BA.
• The impact of these anomalies on long-term outcomes requires further investigation.

Purpose of the Study:

• To analyze the effect of BASM and other anomalies on the long-term outcomes of biliary atresia.
• To compare outcomes between isolated BA, BA with other anomalies, and BA with BASM.

Main Methods:

• A single-center prospective database was utilized, with isolated BA (IBA) serving as controls.
• Outcomes including clearance of jaundice (COJ), overall survival (OS), and native liver survival (NLS) were assessed post-Kasai portoenterostomy (KPE).
• Statistical analysis included non-parametric comparisons, with P≤0.05 defining significance.

Main Results:

• No significant differences were observed in age at KPE or COJ post-KPE across groups (BASM, Anomalies, IBA).
• Overall survival was significantly reduced in both BASM and Anomalies groups compared to IBA (P < 0.0001).
• Native liver survival showed no significant difference between the groups (P = 0.14), but overall survival was significantly reduced in the BASM + cardiac cohort.

Conclusions:

• While initial response to KPE and native liver survival are comparable across groups, overall survival is reduced in BA patients with BASM or other anomalies.
• Cardiac anomalies in the BASM cohort significantly contribute to the reduction in overall survival.
• Isolated BA patients without associated anomalies have a better long-term prognosis compared to those with BASM or other malformations.