EARLY CLINICAL AND SEROLOGIC MARKERS OF BILIARY ATRESIA: ANALYSIS OF THREE CASES IN NORTH SARDINIA

Introduction. Biliary atresia (BA) is a rare but severe disease of infancy, characterized by progressive inflammation and fibrosis targeting the extra- and intra-hepatic bile ducts. Early diagnosis allows the surgical intervention of “Hepatic-Portoenterostomy according to Kasai” avoiding or postponing later in life the need of liver transplantation in about half of cases. Unfortunately, delayed diagnosis are still common, affecting significantly the short and long-term prognosis. The aim of the study was to identify clinical and biochemical markers for an early diagnosis of BA. Methods. The medical records of 3 BA infants diagnosed in 2011-2013 at 2 different Neonatology Units in North Sardinia were retrospectively analyzed. Results. Case 1 is a 29-day-old apparently well baby girl who presented with jaundice and acholic stools. Cholestasis was confirmed by increased serum total bilirubin (12,4 mg/dl) transaminases (AST 176 U/L: ALT 99 U/L) and gamma-glutamyl transferases (gamma-GT 172 U/L) levels. BA diagnosis was highly suspected at the abdominal ultrasounds and promptly confirmed by liver biopsy, allowing a successful Kasai surgery at the 41st day of life. Case 2 is a 39-day-old baby girl with failure to thrive, jaundice, acholic stools, hyperchromic urine. Also in this case BA diagnosis was suspected by clinical and serological evidence of cholestasis (Total Bil 10,9 mg/dl, Direct Bil 8,5 mg/dl, AST 123 U/L, ALT 63 U/L, gamma-GT 225 U/l) and by abdominal ultrasounds. Liver biopsy confirmed BA diagnosis. Kasai surgery was performed at the 44th day of life. Case 3 is a breast-fed baby girl in apparently good health and growth, who came to our attention at 120-day-old because of prolonged jaundice. Cholestasis was revealed by increased serum levels of total and direct bilirubin (11,58 mg% and 4,6 mg%), transaminases (AST 234 U/L: ALT 145 U/L) and gamma-GT (237 U/L). Abdominal ultrasounds showed evidence of cirrhosis and portal hypertension. The liver biopsy confirmed a very advanced BA stage, precluding the Kasai surgery. The baby underwent a successful liver transplantation. Comparison and analysis of the 3 cases identified progressive serum gamma-GT increment as the most reliable and early BA marker. CONCLUSIONS. The direct fraction of bilirubin and serum gamma-GT represent early biochemical BA markers that need close monitoring within the 1st month of life in all the newborns with prolong jaundice with or without the clinical marker of acholic stools.