Liquid chromatography–mass spectroscopy as a tool in the rapid diagnosis of biliary atresia: a pilot study

IntroductionBiliary atresia (BA) is a neonatal obstructive cholangiopathy requiring rapid intervention to prevent end-stage liver failure and death. Low bile acid levels in stool, detectable with high-performance liquid chromatography–mass spectroscopy, may reflect extrahepatic biliary obstruction in cholestasis.HypothesisStool bile acid content can differentiate BA from non-BA forms of cholestasis.MethodsStool samples from four healthy and nine cholestatic patients were collected following internal review board approval. Bile acids were extracted and separated on a 4000-Q-Trap HPLC-MS system.ResultsTotal bile acid content was highest in samples from healthy relative to cholestatic patients: 3354.01 ± 2102.56, 1476.27 ± 1361.07, and 34.29 ± 10.30 μM/mg of stool in healthy, total parenteral nutrition-associated cholestasis, and BA samples, respectively. Mean cholic acid and chenodeoxycholic acid concentrations in healthy samples (2017.5 ± 1413.6 and 876.83 ± 660.60 μM/mg) were higher than in TPN cholestatic samples (93.99 ± 131.55 and 232.34 ± 293.41 μM/mg). The most dramatic reduction in cholic acid and chenodeoxycholic acid was observed in BA samples (0.65 ± 0.47 and 1.22 ± 0.80 μM/mg).ConclusionBile acid content in stool is reduced in cholestatic patients relative to healthy patients with the most dramatic reduction observed in BA-patients.