Heterozygous α1-antitrypsin Z allele mutation in presumed healthy donor livers used for transplantation
(2013) European Journal of Gastroenterology and Hepatology — Vol. 25, n° 11, p. 1335-1339 (2013)
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- Abstract
- OBJECTIVES: The Z allele (Glu342Lys) in α1-antitrypsin (AAT) deficiency is a combined deficiency and dysfunctional allele. Carrying one Z allele induces a risk of a more aggressive evolution in patients with a chronic liver disease. As most of the carriers of Z allele do not have overt liver disease, it is likely that Z allele-containing livers have been used previously for liver transplantation. We analyzed the incidence, epidemiology, and clinical features of AAT accumulation in the hepatocytes after liver transplantation. METHODS: Follow-up biopsies of liver transplant recipients were analyzed with periodic acid Schiff staining until 2006 (n=486); from 2006 on (n=303), all biopsies were stained with a specific monoclonal antibody against mutated AATZ protein. Genotyping of both recipient and donor was performed in the case of positive staining. RESULTS: Of 789 liver transplantation patients, six patients (0.8%) showed mutated AATZ accumulation in the transplanted liver. Mutation analysis confirmed the presence of the Z allele in all donor organs including one transplanted organ with the SZ phenotype. There was a clear concordance between the isoelectrical focusing of the recipient AAT after transplantation and the genotype of the donor. CONCLUSION: Presumed healthy donor organs containing the Z allele were used for transplantation in 0.8% of cases in our series. As the presence of a Z allele is an independent risk factor of aggravation of chronic liver disease, AATZ accumulation in biopsies after liver transplantation should be actively looked for.
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[UGent]
Citations
Roelandt, P., Dobbels, P., Komuta, M., Corveleyn, A., Emonds, M.-P., Roskams, T., Aerts, R., Monbaliu, D., Libbrecht, L., Laleman, W., Verslype, C., Van Steenbergen, W., van der Merwe, S., Pirenne, J., Nevens, F., & Cassiman, D. (2013). Heterozygous α1-antitrypsin Z allele mutation in presumed healthy donor livers used for transplantation. European Journal of Gastroenterology and Hepatology, 25(11), 1335-1339. https://doi.org/10.1097/MEG.0b013e32836171c4 (Original work published 2013)