Clinical denouement and mutation analysis of patients with cystic fibrosis undergoing liver transplantation for biliary cirrhosis
| Autor: | David R. Mack, John L. Colombo, Monica D. Traystman, Dean L. Antonson, Stuart S. Kaufman, Alan Norman Langnas, Jon A. Vanderhoof, Byers W. Shaw, Paul H. Sammut, Rodney S. Markin |
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| Rok vydání: | 1995 |
| Předmět: |
Adult
Lung Diseases Male medicine.medical_specialty Pancreatic disease Adolescent Cystic Fibrosis Genotype medicine.medical_treatment Gene mutation Liver transplantation Cystic fibrosis Gastroenterology Pulmonary function testing Liver disease Internal medicine medicine Humans Point Mutation Child ΔF508 Lung Liver Cirrhosis Biliary business.industry Infant DNA medicine.disease Liver Transplantation Surgery Survival Rate Transplantation Liver Mutagenesis Spirometry Child Preschool Pediatrics Perinatology and Child Health Female business Follow-Up Studies |
| Zdroj: | The Journal of Pediatrics. 127:881-887 |
| ISSN: | 0022-3476 |
| Popis: | 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 P EDIATR 1995;127:881-7) |
| Databáze: | OpenAIRE |
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