Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases

Virchows Arch. 2007 Jul;451(1):57-64. doi: 10.1007/s00428-007-0434-3. Epub 2007 Jun 7.

Abstract

We report here four cases of pediatric patients in whom the diagnosis of cystic fibrosis was made only after the histological examination of a liver specimen obtained by biopsy (three cases) or at autopsy (one case). There were two boys and two girls, aged 13 months to 7.5 years. None had a personal or familial history suggestive of cystic fibrosis. One patient, presenting with myocardial lesion and hepatomegaly, died of heart failure; at autopsy, the liver showed a typical aspect of focal biliary cirrhosis. In the three other cases, liver disease was the only manifestation of cystic fibrosis at the time of diagnosis. Liver biopsy examination showed focal biliary cirrhosis in one case and massive steatosis in two. In all four cases, the diagnosis was confirmed by the existence of known pathogenic mutations in the CFTR gene. The evolution was variable; one patient had progressive liver disease with severe portal hypertension after 7 years; another one had lung complications after 1 year. In conclusion, our experience recalls that the diagnosis of cystic fibrosis must be considered in children presenting with unexplained liver disease; its confirmation by molecular techniques makes it possible to set up an appropriate follow-up.

MeSH terms

  • Biopsy
  • Child
  • Child, Preschool
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Humans
  • Infant
  • Liver / pathology*
  • Male

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator