Neonatal cholestasis, differentia diagnosis, current modalities and treatment

Abstract:

Neonatal cholestasis is defined as prolonged conjugated hyperbilirubinemia beyond the first 14 days of extra-uterine life. If the infant has conjugated hyperbilirubinemia which is defined as conjugated bilirubin concentration greater than 20% or 1.0 mg/dL (17.1 micromol/L) if the total bilirubin is <5.0 mg/dL, or greater than 20% of the total bilirubin if the total bilirubin is >5.0 mg/dL. There are multiple differentials of neonatal cholestasis including biliary atresia, genetic cholestasis, metabolic disorders, Sepsis, TORCH infections and many others. Current advances in the genetics and diagnostic modalities have lessened the cases of idiopathic neonatal hepatitis. The evaluation of neonatal cholestasis should be undertaken in a staged fashion and the treatable causes require diagnosis on a fast track especially biliary atresia, galactosemia, hypothyroidism and sepsis. Genetic diagnosis would also help in the genetic counseling and prenatal diagnosis.