Neonatal liver disease.

Neonatal liver disease encompasses many diagnoses, including structural and genetic aetiologies. Many have significant health implications requiring long-term specialist treatment including liver transplantation. Jaundice is a common presenting feature. The ability of health-care professionals to differentiate neonatal liver disease from benign diagnoses such as physiological jaundice is very important. Persistent (more than 2 weeks) of conjugated jaundice always warrants investigation. Severe unconjugated jaundice (requiring prolonged phototherapy) should also be promptly investigated. Recent advances in genomics have enabled previously elusive, precise diagnoses in some patients with neonatal liver disease. This review paper discusses the commoner causes, with a focus on early detection and need for referral to paediatric liver services.

© 2020 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).