Related Experiment Video

Updated: Dec 21, 2025

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

376

Cystic fibrosis-associated liver disease in children

Paul Wasuwanich1, Wikrom Karnsakul2

  • 1Department of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN, USA.

Minerva Pediatrica
|May 19, 2020
PubMed

Insights

Cystic fibrosis-associated liver disease (CFLD) affects 23% of patients and increases with age. Risk factors include CFTR mutations and specific genetic markers, but treatment efficacy remains uncertain.

Area of Science:

  • Hepatology
  • Pulmonology
  • Genetics

Background:

  • Cystic fibrosis-associated liver disease (CFLD) is a growing concern as CF patient life expectancy improves.
  • CFLD is now the third leading cause of mortality in cystic fibrosis (CF) patients.
  • Understanding CFLD prevalence and risk factors is crucial for patient management.

Purpose of the Study:

  • To review current literature on the prevalence, clinical presentation, and risk factors of CFLD.
  • To summarize the diagnostic challenges and potential mechanisms of CFLD development.
  • To assess the current understanding of CFLD treatment efficacy.

Main Methods:

  • Systematic literature search of PubMed and Google Scholar for CFLD articles.
  • Prioritization of recent publications and studies with larger sample sizes.
  • Review and synthesis of findings on CFLD prevalence, clinical features, risk factors, and treatment.

Main Results:

  • CFLD prevalence is approximately 23% in CF patients, increasing linearly with age.
  • Clinical presentations include hepatomegaly, variceal hemorrhage, elevated liver enzymes, and micro-gallbladder.
  • Risk factors include CFTR mutations (e.g., homozygous F508del), SERPINA1 Z allele, pancreatic insufficiency, meconium ileus, CF-related diabetes, and male sex.

Conclusions:

  • CFLD is a significant and age-dependent complication in cystic fibrosis.
  • While several risk factors are identified, the exact mechanism of CFLD remains unknown.
  • The efficacy of ursodeoxycholic acid for CFLD treatment is questionable, necessitating further research.

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