Research advances in Infantile liver failure syndrome.
10.3760/cma.j.cn511374-20260118-00030
- Author:
Jiaxin MA
1
,
2
;
Ji QI
;
Yumei LI
Author Information
1. Department of Pediatric Intensive Care Unit, The First Hospital of Jilin University, Changchun, Jilin 130021, China. liyumei1988@
2. com.
- Publication Type:English Abstract
- MeSH:
Humans;
Liver Failure, Acute/therapy*;
Infant;
Diagnosis, Differential
- From:
Chinese Journal of Medical Genetics
2026;43(4):312-317
- CountryChina
- Language:Chinese
-
Abstract:
Pediatric acute liver failure (PALF) is a rare and critical clinical syndrome with a poor prognosis. Its etiology is complex, with a significant proportion of cases having remained classified as indeterminate or cryptogenic PALF. With the application of high-throughput sequencing technologies, a spectrum of disorders caused by specific genetic metabolic defects and characterized by stress-sensitive Recurrent acute liver failure (RALF) has been gradually unveiled, collectively termed Infantile liver failure syndrome (ILFS). Although the molecular mechanisms underlying the subtypes ILFS1, ILFS2, and ILFS3 differ by involving aminoacyl-tRNA synthetase defects, vesicular transport disorders, and autophagy abnormalities, respectively, they share a common clinical phenotype of RALF triggered by fever or infection. This article has systematically reviewed the clinical phenotypic spectrum, molecular genetic characteristics, differential diagnosis strategies, and therapeutic advances of the three ILFS subtypes, with the goal of improving early clinical recognition and precise intervention, and providing an important reference for evaluating the prognosis of different subtypes.
