Neonatal liver disease

Establishing a rapid and accurate diagnosis of the cause of neonatal liver disease is an urgent matter. The initial detection of this condition relies on the sensitivity of the primary care provider or pediatrician to the signs and symptoms of jaundice and abnormal stool and urine color. It is critical to evaluate jaundice in any infant older than 2 weeks with measurement of fractionated bilirubin, and further assessment is necessary if the direct value is above 1.0 mg/dL in the setting of a total bilirubin of less than 5.0 mg/dL or a direct bilirubin of more than 20% of total if the total is more than 5.0 mg/dL. A diagnostic algorithm for the evaluation of infants who meet these criteria can guide physicians in selecting appropriate and timely diagnostic testing and referral to pediatric gastroenterology for these patients, whose outcome will rely on rapid diagnosis.