Related Experiment Video

Updated: Jan 12, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

426

Clinical characteristics and genetic causes of unexplained pediatric liver disease

Yuan Chen1, Zhi-Yi Wang2,3,4, Bao-Qi Chen1

  • 1Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong Province, China.

World Journal of Hepatology
|November 3, 2025
PubMed

Insights

Whole-exome sequencing (WES) significantly aids in diagnosing unexplained pediatric liver disease, identifying genetic causes to guide personalized treatment and improve patient outcomes.

Area of Science:

  • Pediatric Hepatology
  • Clinical Genetics
  • Medical Diagnostics

Background:

  • Increasing incidence of unexplained liver disease in children.
  • Whole-exome sequencing (WES) shows diagnostic potential but requires further study.

Purpose of the Study:

  • Investigate clinical features and genetic underpinnings of unexplained pediatric liver disease.
  • Enhance diagnostic and therapeutic strategies for affected children.

Main Methods:

  • Retrospective analysis of 80 children with unexplained liver disease, categorized by liver enzyme elevation or cholestasis.
  • Whole-exome sequencing (WES) performed on patients and their parents.

Main Results:

  • WES yielded genetic results in 57.5% of patients (46/80).
  • 52.5% (42/80) had pathogenic or likely pathogenic variants, including 13 novel variants.
  • 19 different gene mutations were identified across both patient groups.

Conclusions:

  • Whole-exome sequencing (WES) substantially improves etiological diagnosis for unexplained pediatric liver disease.
  • Genetic findings from WES facilitate tailored treatment plans and better prognoses.
Abstract

Keywords:
Alagille syndromeLiver diseasePediatricWhole-exome sequencingWilson's disease

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