Abstract
Alpha-1 antitrypsin deficiency is the commonest genetic condition leading to liver transplantation in childhood. It remains unclear why only a minority of individuals carrying homozygous PiZ phenotype has liver disease, but also why of those only about a quarter develops end stage liver disease, requiring liver transplantation. This intervention has now become routine worldwide with 1-year patient survival rates well above 90%. As for all autosomal recessive conditions liver donation from anonymous cadaveric sources is preferred to living related parental donors, due to their presumed heterozygous state.
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References
Francavilla R, Castellaneta SP, Hadzic N, Chambers SM, Portmann B, Tung J, Cheeseman P, Rela M, Heaton ND, Mieli-Vergani G (2000) Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation. J Hepatol 32(6):986–992
Vennarecci G, Gunson BK, Ismail T, Hübscher SG, Kelly DA, McMaster P, Elias E (1996) Transplantation for end stage liver disease related to alpha 1 antitrypsin. Transplantation 61(10):1488–1495
Filipponi F, Soubrane O, Labrousse F, Devictor D, Bernard O, Valayer J, Houssin D (1994) Liver transplantation for end-stage liver disease associated with alpha-1-antitrypsin deficiency in children: pretransplant natural history, timing and results of transplantation. J Hepatol 20(1):72–78
Kemmer N, Kaiser T, Zacharias V, Neff GW (2008) Alpha-1-antitrypsin deficiency: outcomes after liver transplantation. Transplant Proc 40(5):1492–1494
Carey EJ, Iyer VN, Nelson DR, Nguyen JH, Krowka MJ (2013) Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency–related cirrhosis. Liver Transpl 19(12):1370–1376
Sveger T (1976) Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 294(24):1316–1321
Hussain M, Mieli-Vergani G, Mowat AP (1991) Alpha 1-antitrypsin deficiency and liver disease: clinical presentation, diagnosis and treatment. J Inherit Metab Dis 14(4):497–511
Dawwas MF, Davies SE, Griffiths WJ, Lomas DA, Alexander GJ (2013) Prevalence and risk factors for liver involvement in individuals with PiZZ-related lung disease. Am J Respir Crit Care Med 187(5):502–508
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Hadzic, N. (2017). Therapeutic Options in Alpha-1 Antitrypsin Deficiency: Liver Transplantation. In: Borel, F., Mueller, C. (eds) Alpha-1 Antitrypsin Deficiency . Methods in Molecular Biology, vol 1639. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7163-3_26
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DOI: https://doi.org/10.1007/978-1-4939-7163-3_26
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Publisher Name: Humana Press, New York, NY
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Online ISBN: 978-1-4939-7163-3
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