Advances in the pathogenesis and treatment of infantile liver failure syndrome-2
10.3760/cma.j.issn.1673-4408.2021.09.001
- VernacularTitle:2型婴儿肝功能衰竭综合征发病机制及治疗研究进展
- Author:
Bingxin JIANG
1
;
Fangfei XIAO
;
Yizhong WANG
;
Ting ZHANG
Author Information
1. 上海交通大学附属儿童医院 上海市儿童医院消化感染科 200062
- Keywords:
Infantile liver failure syndrome-2;
Neuroblastoma amplified sequence gene mutation;
Recurrent acute liver failure
- From:
International Journal of Pediatrics
2021;48(9):579-583
- CountryChina
- Language:Chinese
-
Abstract:
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.
