J Pediatr 1995 Dec;127(6):881-7

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

Mack DR, Traystman MD, Colombo JL, Sammut PH, Kaufman SS, Vanderhoof JA,
Antonson DL, Markin RS, Shaw BW Jr, Langnas AN

Department of Pediatrics, University of Nebraska Medical Center, Omaha
68198-5160, USA.
Abstract
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