Abstract

Keywords: Alfa-1 antitripsin, Çocuklar, Karaciğer, Genotip, Fenotip

References

  1. 1.Perlmutter DH. Genetic and Metabolic Disorders, Alpha-1 Antitrypsin Deficiency. in: Kleinman RE, Goulet OJ, Mieli-Vergani G, Sanderson IR, Sherman PM, Shneider BL editors. Walker’s Pediatric Gastrointestinal Disease 6th ed. North Carolina: People’s Medical Publishing House-USA 2018:3825-87.
  2. 2.de Serres FJ. Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect 2003;111:1851-4.
  3. 3.Basturk A, Yılmaz A, Sayar E, Dinçhan A, Aliosmanoğlu İ, Erbiş H et al. Pediatric Liver Transplantation: Our Experiences. Eurasian J Med 2016;48:209-12.
  4. 4.Moray G, Tezcaner T, Akdur A, Özçay F, Sezgin A, Kırnap M, et al. Results of pediatric liver transplant: a single-center experience. Exp Clin Transplant 2015 Apr;13 Suppl 1:59-63.
  5. 5.Hazari YM, Bashir A, Habib M, Bashir S, Habib H, Qasim MA. Alpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions. Mutat Res 2017;773:14-25.
  6. 6.Townsend SA, Edgar RG, Ellis PR, Kantas D, Newsome PN, Turner AM. Systematic review: the natural history of alpha-1 antitrypsin deficiency, and associated liver disease. Aliment Pharmacol Ther 2018;47:877–85.
  7. 7.Teckman J. Author’s response. J Pediatr Gastroenterol Nutr 2015;60:e38.
  8. 8.Abboud RT, Nelson TN, Jung B, Mattman A. Alpha1-antitrypsin deficiency: a clinical-genetic overview. Appl Clin Genet 2011 Mar 31;4:55-65.
  9. 9.Bjursell M, Porritt MJ, Ericson E, Taheri-Ghahfarokhi A1, Clausen M1, Magnusson L. Therapeutic Genome Editing With CRISPR/Cas9 in a Humanized Mouse Model Ameliorates α1-antitrypsin Deficiency Phenotype. EBioMedicine 2018;29:104-11.
  10. 10.Schaefer B, Mandorfer M, Viveiros A, Finkenstedt A, Ferenci P, Schneeberger S, et al. Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease. Liver Transpl 2018;24:744-51.
  11. 11.Comba A, Demirbaş F, Çaltepe G, Eren E, Kalayci AG. Retrospective analysis of children with α-1 antitrypsin deficiency. Eur J Gastroenterol Hepatol 2018;30:774-8.
  12. 12.Cacciottolo TM, Gelson WT, Maguire G, Davies SE, Griffiths WJ. Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis. Eur J Gastroenterol Hepatol 2014;26:412-7.
  13. 13.Turner AM, Stolk J, Bals R, Lickliter JD, Hamilton J, Christianson DR, et al. Hepatic-targeted RNAinterference provides robust and persistent knockdown of alpha-1 antitrypsin levels in ZZ patients. J Hepatol 2018;69:378-84.

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How to cite

1.
Ünlüsoy Aksu A. The Liver Involvement and Genetics of Alpha-1 Antitrypsin Deficiency in the Children. Turk J Pediatr Dis [Internet]. 2019 Mar. 26 [cited 2025 May 25];13(2):73-7. Available from: https://turkjpediatrdis.org/article/view/623