Abstract
References
- 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.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.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.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.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.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.Teckman J. Author’s response. J Pediatr Gastroenterol Nutr 2015;60:e38.
- 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.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.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.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.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.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.
Abstract
Amaç: Alfa-1 antitripsin eksikliği (A1ATE), çocuklarda en sık görülen genetik karaciğer hastalığıdır. Çalışmamızda karaciğer disfonksiyonu bulguları ile başvuran ve A1ATE tanısı alan olguların klinik, laboratuvar ve histopatolojik bulguları incelenerek hastalığın karaciğer tutulumunun değerlendirilmesi amaçlanmıştır.
Gereç ve Yöntemler: Çocuk Gastroenteroloji kliniğinde A1ATE tanısı ile izlenen 18 yaş altındaki çocukların demografik, klinik, laboratuvar, histopatolojik bulguları ve A1ATE genotipleri geriye dönük taranmıştır. Hastalar homozigot ZZ alleline sahip olanlar (grup 1) ve diğer genotiplere sahip olanlar (grup 2) olarak ikiye ayrılarak değerlendirilmiştir.
Bulgular: Haziran 1998-Haziran 2018 yılları arasında A1ATE tanısı alan 20 çocuktan; 18’ine fenotipik inceleme yapılmış olup, 7’si homozigot ZZ (%35), 7’si MZ (%35), biri MS, biri MMalton, biri Mduarte, biri I allellerine sahiptir. Grup 1’de serum A1AT düzeyinin grup 2’ye göre daha düşük olduğu bulunmuştur (p=0,016). Diğer klinik ve laboratuvar bulgularına bakıldığında iki grup arasında istatistiksel anlamlı fark bulunmamıştır. İzlemde hastalardan ikisine son dönem karaciğer hastalığı nedeni ile karaciğer nakli yapılmıştır. Karaciğer nakli yapılan bir hasta MZ genotipine sahiptir, diğer hastaya genotiplendirme yapılamamıştır.
Sonuç: A1ATE çocuklarda karaciğer hastalığının önemli bir nedeni olsa da, bu mutasyonu taşıyan hastaların az bir kısmında ilerleyici karaciğer hastalığı gelişmektedir.
Keywords
References
- 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.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.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.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.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.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.Teckman J. Author’s response. J Pediatr Gastroenterol Nutr 2015;60:e38.
- 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.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.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.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.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.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.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | ORIGINAL ARTICLES |
| Authors | |
| Publication Date | March 26, 2019 |
| Submission Date | January 9, 2019 |
| Published in Issue | Year 2019 Volume: 13 Issue: 2 |
The publication language of Turkish Journal of Pediatric Disease is English.
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