Cholestasis in the Baby and Infant

Abstract

Cholestasis in children is a serious condition due to various aetiologic factors. If children with jaundice present with acholic stool, dark urine colour, or direct hyperbilirubinaemia, the patient should be evaluated urgently. Early and timely diagnosis and initiation of appropriate treatment are extremely important determinants of morbidity and mortality. In the neonatal period, idiopathic neonatal cholestasis, alpha-1 antitrypsin deficiency, cholestasis from infections, and biliary atresia are the most common causes of cholestasis. Nowadays, with the development of genetic and molecular biological studies, the diagnosis of many diseases that have previously been evaluated as ‘idiopathic‘ can be made. It is the aetiological factor that determines the prognosis. The treatment plan is created in accordance with aetiological causes and in response to symptoms such as pruritus and malabsorption: this can be surgical treatment across a diverse spectrum, from biliary diversion to liver transplantation. In this study, the aetiology, diagnosis, and treatment of cholestasis in babies and infants are reviewed in the light of current literature.