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

David R. Mack, Monica D. Traystman, John L. Colombo, Paul H. Sammut, Stuart S. Kaufman, Jon A. Vanderhoof, Dean L. Antonson, Rodney S. Markin, Byers W. Shaw, Alan N. Langnas

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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 of 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, ΔF508/ΔF508; one patient, ΔF508/N1303K; and three patients, ΔF508/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. (J PEDIATR 1995;127:881-7).

Original languageEnglish (US)
Pages (from-to)881-887
Number of pages7
JournalThe Journal of Pediatrics
Volume127
Issue number6
DOIs
StatePublished - Dec 1995

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Biliary Liver Cirrhosis
Cystic Fibrosis
Liver Transplantation
Mutation
Transplantation
Lung
End Stage Liver Disease
Vital Capacity
Forced Expiratory Volume
Immunosuppressive Agents
Survivors
Liver Diseases
Diabetes Mellitus
Survival Rate
Genotype
Insulin

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Clinical denouement and mutation analysis of patients with cystic fibrosis undergoing liver transplantation for biliary cirrhosis. / Mack, David R.; Traystman, Monica D.; Colombo, John L.; Sammut, Paul H.; Kaufman, Stuart S.; Vanderhoof, Jon A.; Antonson, Dean L.; Markin, Rodney S.; Shaw, Byers W.; Langnas, Alan N.

In: The Journal of Pediatrics, Vol. 127, No. 6, 12.1995, p. 881-887.

Research output: Contribution to journalArticle

Mack, David R. ; Traystman, Monica D. ; Colombo, John L. ; Sammut, Paul H. ; Kaufman, Stuart S. ; Vanderhoof, Jon A. ; Antonson, Dean L. ; Markin, Rodney S. ; Shaw, Byers W. ; Langnas, Alan N. / Clinical denouement and mutation analysis of patients with cystic fibrosis undergoing liver transplantation for biliary cirrhosis. In: The Journal of Pediatrics. 1995 ; Vol. 127, No. 6. pp. 881-887.
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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 of 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, ΔF508/ΔF508; one patient, ΔF508/N1303K; and three patients, ΔF508/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. (J PEDIATR 1995;127:881-7).",
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AU - Colombo, John L.

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AU - Kaufman, Stuart S.

AU - Vanderhoof, Jon A.

AU - Antonson, Dean L.

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AU - Langnas, Alan N.

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N2 - 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 of 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, ΔF508/ΔF508; one patient, ΔF508/N1303K; and three patients, ΔF508/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. (J PEDIATR 1995;127:881-7).

AB - 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 of 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, ΔF508/ΔF508; one patient, ΔF508/N1303K; and three patients, ΔF508/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. (J PEDIATR 1995;127:881-7).

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