Advances in the pathogenesis and treatment of infantile liver failure syndrome-2 / 国际儿科学杂志

Infantile liver failure syndrome-2(ILFS2)is a rare autosomal recessive disorder caused by neuroblastoma amplified sequence(NBAS)gene mutation, manifested as recurrent acute liver failure(ALF)with fever/infection-related pathogenesis.First-onset ALF is common in infants or early childhood(8 months to 3 years of age). The main characteristic of this disease is that the liver function can be recovered completely in the interval, and the definitive diagnosis is based on the identification of NBAS gene mutation in gene analysis.Until now, the pathogenesis of ILFS2 is not yet fully understood.Patients can be treated by supportive treatment clinically, while liver transplantation is the only treatment option currently available for patients with end-stage ALF.This review will focus on the recent progress in the pathogenesis and treatment of ILFS2.

Wolcott-Rallison Syndrome- Endocrinopathy with Recurrent Acute Liver Failure

A 2-yr-old child with early onset diabetes and hypothyroidism,and diagnosed as Wolcott-Rallison Syndrome, developed twoepisodes of acute liver failure and recovered, but he remains athigh risk of developing another episode of acute liver failure.Autoimmune, metabolic or genetic disorders should be evaluatedin children with recurrent acute liver failure and genetic testsneeds to be considered