Prevalence of elevated liver enzymes in children with cystic fibrosis diagnosed by newborn screen

J Cyst Fibros. 2017 Jan;16(1):139-145. doi: 10.1016/j.jcf.2016.08.002. Epub 2016 Aug 20.


Background: Prevalence and risks for elevated liver enzymes have not been studied systematically in children with CF identified by newborn screen.

Methods: 298 CF children identified by newborn screen since 1982. AST, ALT and GGT tested at annual visits. Percent of children with 1 or ≥2 values of elevated AST, ALT and GGT determined. Relationship of liver enzymes to clinical factors or subsequent liver disease was analyzed RESULTS: At least one abnormal value for AST (63%), ALT (93%) and ALT ≥1.5× ULN (52%) occurred by 21years of age. Liver enzyme elevations were not correlated with CFTR mutation, meconium ileus or ethnicity. AST and GGT ≥1.5× ULN were associated with later advanced liver disease HR (CI) 6.53 (2.02-21.1) and 4.03 (1.15-13.45), respectively.

Conclusions: Elevated liver enzymes are common during childhood in CF patients identified by newborn screen. Elevated AST and GGT may be markers for risk of advanced liver disease.

Keywords: Cystic fibrosis liver disease; Newborn screening.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alanine Transaminase / blood*
  • Aspartate Aminotransferases / blood*
  • Child, Preschool
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis* / blood
  • Cystic Fibrosis* / complications
  • Cystic Fibrosis* / diagnosis
  • Cystic Fibrosis* / epidemiology
  • Female
  • Humans
  • Infant, Newborn
  • Liver Diseases* / diagnosis
  • Liver Diseases* / epidemiology
  • Liver Diseases* / etiology
  • Liver Function Tests / methods
  • Liver Function Tests / statistics & numerical data
  • Male
  • Neonatal Screening / methods
  • Prevalence
  • Prognosis
  • Statistics as Topic
  • United States / epidemiology
  • Young Adult
  • gamma-Glutamyltransferase / blood*


  • Cystic Fibrosis Transmembrane Conductance Regulator
  • gamma-Glutamyltransferase
  • Aspartate Aminotransferases
  • Alanine Transaminase