胆道閉鎖症の小児は早期にかなりの罹患率を示し、肝移植のリスクが高い

Biliary atresia is a rare but severe congenital anomaly associated with substantial morbidity and mortality in early childhood. Population-based estimates of survival, surgical management, and liver transplantation across Europe remain limited. This study aimed to describe mortality and morbidity among children born with biliary atresia using multinational population-based data.

We investigated children diagnosed with biliary atresia across nine registries from five countries within the European surveillance of congenital anomalies network (EUROCAT), covering births from 1995 to 2014. The data were linked to hospital databases and adjusted for regional differences and follow-up length.

Our cohort included 171 children, with an infant mortality rate of 12.3% (95% CI: 7.8-17.6) and a mortality rate before age five of 18.5% (95% CI: 10.7-27.7). Among these children, 151 had undergone surgery, including 133 who received the Kasai procedure by the age of 1 year at a median age of 57 days (95% CI: 51-62 days). By age five, 37% (adjusted percentage, 95% CI: 30-44) had undergone liver transplantation, with the median age at transplantation being 318 days (95% CI: 244-391 days). Median age at death in the first year was over 6 months and was not immediately after surgery.

The high mortality and the substantial need for liver transplantation within the first year of life underline the severity of biliary atresia. This highlights the urgent need for further research into pregnancy exposures that may contribute to this rare but severe congenital anomaly to develop primary prevention strategies.