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Minerva Pediatrica 2020 May 15

DOI: 10.23736/S0026-4946.20.05895-8

Copyright © 2020 EDIZIONI MINERVA MEDICA

language: English

Cystic fibrosis-associated liver disease in children

Paul WASUWANICH 1, Wikrom KARNSAKUL 2

1 Department of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN, USA; 2 Division of Pediatric Gastroenterology, Nutrition, and Hepatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA


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INTRODUCTION: As improvements in nutritional and pulmonary care increase the life expectancy of cystic fibrosis (CF) patients, CF-associated liver disease (CFLD) is emerging as a cause of mortality. CFLD is the third leading cause of death in CF patients.
EVIDENCE ACQUISITION: We performed a search on PubMed and Google Scholar for published articles on CFLD.
EVIDENCE SYNTHESIS: We reviewed the articles found in the literature search and gave priority to recent publications and studies with larger sample sizes.
CONCLUSIONS: The prevalence of CFLD in the CF population is around 23% with a range of 2-62% and that prevalence increases linearly with age from 3.7% at age 5 to 32.2% at age 30. CFLD can present clinically in various ways such as hepatomegaly, variceal hemorrhage, persistent elevation of liver enzymes, and microgallbladder. Due to the focal nature of fibrosis in majority cases of CFLD, liver biopsies are sparsely performed for diagnosis or the marker of liver fibrosis. Although the mechanism of CFLD development is still unknown, many potential factors are reported. Some mutations of CFTR such as having a homozygous F508del mutation has been reported to increase the risk of developing CFLD and its severity. Having the SERPINA1 Z allele, a history of pancreatic insufficiency, a history meconium ileus, CF-related diabetes, or being male increases the risk of developing CFLD. Environmental factors do not appear to have significant effect on modulating CFLD development. Ursodeoxycholic acid is commonly used to treat or prevent CFLD, but the efficacy of this treatment is questionable.


KEY WORDS: Portal hypertension; Epidemiology; Therapeutics; Risk factors; Varicose veins

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