Clinical denouement and mutation analysis of patients with cystic fibrosis undergoing liver transplantation for biliary cirrhosis

J Pediatr. 1995 Dec;127(6):881-7. doi: 10.1016/s0022-3476(95)70022-6.


Objective: To describe the clinical characteristics of patients with cystic fibrosis considered for liver transplantation and the clinical outcome after transplantation.

Methods: Patient charts were reviewed. Mutation analysis was performed on blood or liver tissue samples with a panel of 17 mutations.

Results: Eight patients (five girls) with cystic fibrosis have undergone orthotopic liver transplantation for biliary cirrhosis. Mean age at transplantation was 12.0 years +/- 7.7 years (range, 9 months to 23 years). Preoperatively, seven patients had mild to moderate pulmonary dysfunction and one moderate to severe pulmonary dysfunction. All patients required pancreatic enzyme replacement, and four patients required insulin for diabetes mellitus. The 1-year survival rate was 75%, with no deaths related to septic events. Mean time of follow-up the six operative survivors was 4.1 years +/- 1.9 years. Pulmonary function testing, in those serially tested, showed that forced expiratory volume in 1 second was maintained or improved and that forced vital capacity improved after transplantation. Mutation analysis showed the following genotypes: four patients, delta F508/delta F508; one patient, delta F508/N1303K; and three patients, delta F508/unknown.

Conclusions: Despite the high risk of transplantation, these encouraging results indicate that liver transplantation should be considered for patients with cystic fibrosis and complications of end-stage liver disease. We could not demonstrate an unusual pattern of CF gene mutations in these patients with severe liver disease. It appeared that immunosuppressive agents did not have a deleterious effect on pulmonary function.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / physiopathology
  • DNA / analysis
  • Female
  • Follow-Up Studies
  • Genotype
  • Humans
  • Infant
  • Liver / physiopathology
  • Liver / surgery*
  • Liver Cirrhosis, Biliary / complications*
  • Liver Cirrhosis, Biliary / surgery*
  • Liver Transplantation*
  • Lung / microbiology
  • Lung Diseases / diagnosis
  • Lung Diseases / microbiology
  • Male
  • Mutagenesis
  • Point Mutation
  • Spirometry
  • Survival Rate


  • DNA