Genetic landscape of pediatric acute liver failure of indeterminate origin.

ABSTRACT:

Background and aims

Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%-16%) and inherited metabolic diseases (14%-28%). Yet, in up to 50% of cases the underlying etiology remains elusive, challenging clinical management, including liver transplantation. We systematically studied indeterminate PALF cases referred for genetic evaluation by whole-exome sequencing (WES), and analyzed phenotypic and biochemical markers, and the diagnostic yield of WES in this condition.

Approach and results

With this international, multicenter observational study, patients (0-18 y) with indeterminate PALF were analyzed by WES. Data on the clinical and biochemical phenotype were retrieved and systematically analyzed.

Result

SUBMITTER: Lenz D 

PROVIDER: S-EPMC11020061 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature