Crigler-Najjar syndrome

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Crigler-Najjar syndrome: Diagnosis and treatment.” (An Pediatr (Barc). 2006 Jul;65(1):73-8). Authors are Lodoso Torrecilla B, Palomo Atance E, Camarena Grande C, et al., from the Servicio de Hepatologia. Hospital Infantil Universitario La Paz. Madrid, Espana. Crigler-Najjar syndrome (CNS) is a very rare disease characterized by severe indirect hyperbilirubinemia from birth with normal liver function. It may cause kernicterus at any age. This disease is due to a total or partial deficiency of the UDP-glucuronosyltransferase enzyme caused by a mutation of the five exons of the ULT1A1 gene. The authors reviewed the clinical outcomes of 7 children diagnosed with CNS between 1987 and 2004. The conclusions are that patients with CNS are at greater risk of developing kernicterus, mostly associated with indirect bilirubin levels of around 25 mg/dl. Phototherapy is very useful in these patients but the only definitive treatment is liver transplantation. To access the full abstract of the article, click here.