ЗАБОЛЕВАНИЕ ПЕЧЕНИ У ДЕТЕЙ, ВЫЗВАННОЕ Α1-АНТИТРИПСИНОВОЙ НЕДОСТАТОЧНОСТЬЮ
Аннотация
Об авторах
Н. Н. ВласовРоссия
Е. А. Корниенко
Россия
С. И. Мельник
Россия
Список литературы
1. Perlmutter D. H.: “Alpha-1-antitrypsin” // In book Schiff E. R., Sorrell M. F., Maddrey W. C. (eds.) Schiff’s Diseases of the Liver, 11th edn. Oxford, Wiley-Blackwell, 2011, p. 835-867.
2. Silverman E. K., Sandhaus R. A.: “Clinical practice. Alpha1-antitrypsin deficience” // N. Engl. J. Med., 2009, 360, p. 2749-2757.
3. Sherlock S., Dooley J.: «Diseases of the Liver and Biliary System» // Oxford, UK: Blackwell Science Ltd a Blackwell Publishing, 11 Edition, 2002-706 p.
4. Teckman J. H., Qu D., Perlmutter D. H.: “Molecular pathogenesis of liver disease in α₁-antitrypsin deficiency” // Hepatology, 1996, 24, p. 1504-1516.
5. Carlson J. A., Rogers B. B., Sifers R. N. et al.”Accumulation of PiZ antitrypsin causes liver damage in transgenic mice” // Clin. Invest. 1988, 83, p. 1183-1190.
6. Eriksson S.: “α₁-antitrypsin deficiency” // J. Hepatol., 1999, 30, suppl. 1, p. 34-39.
7. Perlmutter D. H.: “Alpha-1-antitrypsin deficiency” // Semin. Liver Dis., 1998, 18, p. 217-222.
8. Crystal R. G.: “α₁-Antitrypsin deficiency, emphysema, and liver disease: genetic basis and strategies for therapy” // J. Clin. Invest, 1990, 85, p. 1343-1352.
9. Lomas D. A.: Loop sheet polymerization: the structural basis of Z α₁-antitrypsin accumulation in the liver” // Clin. Sci., 1994, 86, p. 489.
10. Lomas D. A., Evans D. L.I., Finch J. T. et al.: “The mechanism of Z α₁-antitrypsin accumulation in the liver” // Nature, 1992, 357, p. 605-607.
11. Qu D., Teckman J. H., Perlmutter D. H.: “α₁-Antitrypsin deficiency associated liver disease” // J. Gasroenterol., Hepatol., 1997, 12, p. 404-416.
12. Teckman J. H., Perlmutter D. H.: “Conceptual advances in the pathogenesis and treatment of childhood liver disease” // Gasroenterology, 1995, 108, p. 1263-1279.
13. Wu G., Whitman F., Mobments E. et al.: “A lag in intracellular degradation of mutant α₁-antitrypsin correlated with the liver disease phenotype in homozygous PiZZ α₁-antitrypsin deficiency” // Proc. Natl. Acad. Sci. USA, 1995, 91, p. 9014-9018.
14. Geller S., Hichols W. S., Dycacio M. J. et al.; ‘Histopathology of α₁-antitrypsin liver disease in a transgenic mouse model” // Hepatology, 1990, 12, 40, p. 40-47.
15. Geller S., Hichols W. S., Kim S. S. et al.; “Hepatocarcinogenesis is the sequel to hepatitis in Z#2 α₁-antotrypsin transgenic mice: histopatholgical and DNA ploidy studies” // Hepatology, 1994, 19, p. 389-397.
16. Perlmutter D. H.: “Alpha-1-antitrypsin deficiency: Importance of proteasomal and autophagic degradative pathways in disposal of liver disease-associated protein aggregates” // Annu Rev. Med., 2011, 62, 4.1-4.13.
17. Hadzic N., Quaglia A., Mieli-Vergani G.: “Hepatocellular carcinoma in a 12-year-old child with PiZZ α₁-antitrypsin deficiency” // Hepatology, 2006, 43, p. 194.
18. Zhou H., Ortiz-Pallardo M.E., Ko Y., Fischer H-P.: “Is heterozygous alpha-1-antitrypsin deficiency type PiZ a risk factor for primary liver cancer” // Cancer, 2000, 88, p. 2668-2676.
19. Perlmutter D.: “α₁-Antitrypsin deficiency” // In book Suchy F. J., Sokol R. J., Balistreri W. F. Liver Disease in Children. Fourth Edition. Cambridge University Press 2014, p. 400-418.
20. Propst T., Propst A., Dietze O. et al.: “Prevalence of hepatocellular carcinoma in α₁-antitrypsin deficiency” // J. Hepatol., 1994, 21, p. 1006.
21. Glasgow J. F.T., Lynch, Hercz A. et al.: “α₁-antitrypsin deficiency in association with both cirrhosis and chronic obstructive lung disease in two sibs” // Am. J. Med., 1973, 54, p. 181.
22. Bakula A., Socha P., Adamowich M. et al.: “Early and late clinical presentation of α-1 antitrypcin deficiency in children” // Gut, 2005, suppl. N VII, vol. 54 - Endoscopy, 2005, suppl. N1, vol. 34, p. A 193.
23. Francavilla R., Castellaneta S. P., Hadzic N. et al.: “α-1 antitrypsin deficiency: a 29 years experience in 241 children”. // J. Hepatol., 1999, vol. 30, suppl. № 1, p. 51.
24. Francavilla R., Castellaneta S. P., Hadzic N. et al.: “Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation”. // J. Hepatol., 2000, 32, р. 986-989.
25. Sveger T., Eriksson S.: “The liver in adolescents with α₁-anritrypsin deficiency” // Hepatology, 1995, 22, р. 514-517.
26. Roberts E. A.: “ The Acutely Ill Baby” // In book “Diseases of the Liver and Biliary System in Children Edited By Deirdre Kelly, 2008, Blackwell Publishing, p. 57-105.
27. Nord K. S., Saad S., Joshi V.V, McLoughlin L.C.: “Concurrence of a1-antitrypsin deficiency and biliary atresia” // J. Pediatr., 1987, 111, p. 416-418.
28. Cottrall K., Cook P. J.L., Mowat A. P.: “Neonatal hepatitis syndrome and alpha-1-antitrypsin deficiency: An epidemiological study in south-east England” // Postgrad. Med. J., 1974, 50, p. 376-380.
29. Roberts E. A.: “The Jaundiced Baby” // In book: Kelly D.: Diseases of the Liver and Biliary System in Children. Third Edition. Blackwell Publishing, 2008, p. 57-106.
30. Sharp H. I.: “Alpha 1-antitrypsin deficiency” // Hosp. Pract., 1971, 6(5), p. 83-96.
31. Sveger T.: “The natural history of liver disease in α₁-antitrypsin deficient children” // Acta Paediatr. Scand., 1988, p. 847-851.
32. Ybarguen E., Gross C. R., Savik S. K. et al.: “Liver disease in α₁-antitrypsin deficiency: prognostic indicators” // J. Pediatr., 1990, 117, p. 864-870.
33. Sveger T.: “Liver disease in α₁-antitrypsin deficiency detected by screening of 200 000 infants” // N. Engl. J. Med., 1976, 294, 1216-1221.
34. Brantly M.: “Laboratory diagnosis of α₁-АТ deficiency”. // In Crystal R. G. editor. Alpha 1-Antitrypsin Deficiency: Biology, Pathogenesis, Clinical Manifestations, Therapy. New York: Marcel Dekker, 1996, p. 221-226.
35. Pitulainen E., Carlson J., Ohlsson K. et al.: “Alpha-1-antitrypsin deficiency in 26-year-old subjects: lung, liver and protease/protease inhibitor studies” // Chest 2005, 128, 2076-2081.
36. Volpert D, Molleston JP, Perlmutter DH. Alpha1-antitrypsin deficiency-associated liver disease progresses slowly in some children. // J. Pediatr. Gastroenterol. Nutr., 2000б 31б, р. 258-263.
37. Graziadi I. W., Joseph J. J., Wiesner R. H. et al: “Increased risk of chronic liver failure in adults with heterozygous α₁-antitrypsin deficiency” // Hepatology, 1998, 28, p. 1058.
38. Pittschieler K.: “Heterozygotes and liver involvement”. // Acta Paediatr., 1994, 83 (suppl. 393), p. 21-23.
39. Francavilla R., Castellaneta S. P., Hadzic N. et al.: “Liver disease in PiSS/PiSZ phenotype of α-1 antitrypsin deficiency”. // J. Hepatol., 1999, vol. 30, suppl. № 1, p. 164.
40. Psacharopoulos H. T., Mowat A. P., Cook P. J. et al.: “Outcome of liver disease associated with alpha 1 antitrypsin deficiency (PiZ). Implications for genetic counselling and antenatal diagnosis” // Arch. Dis. Child., 1983, 58, p. 882-887.
41. Nebbia G., Hadchouel M., Odievre M. et al.: “Early assessment of evolution of liver disease associated with alpha 1-antitrypsin deficiency in childhood” // J. Pediatr., 1983, 102, p. 661-665.
42. Ibarguen E, Gross CR, Savik SK, Sharp HL. Liver disease in alpha-1-antitrypsin deficiency: prognostic indicators. // J. Pediatr., 1990, 117, 864-870.
43. Prachalias A. A., Kalife M., Francavilla R. et al.: “Liver transplantation for alpha-1-antitrypsin deficiency in children” // Transpl. Int., 2000, 13, 207-210.
44. Teckman J. H., Perlmutter D. H.: “Retention of mutant α₁-antitrypsin Z in endoplasmatic reticulum is associated with an autophagic response” // Am. J. Physiol., 2000, 279, G961-G974.
45. Lang T., Mühlbauer M., Strobelt M. et al.: “Alpha-1-antitrypsin deficiency in children: liver disease is not reflected by low serum levels of alpha-1-antitrypsin a study on 48 pediatric patients” // Eur. J. Med. Res., 2005, 10, p. 509-514.
46. Teckman J. H.: “Lack of effect of oral 4-phenylbutyrate on serum alpha-1-antitrypsin in patients with alpha-1-antitrypsin deficiency: preliminary study” // J. Pediatr. Gastroenterol. Nutr., 2004, 39, 34-37.
47. Burrows J. A., Willis L. K., Perlmutter D. H.: “Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: a potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency” // Proc. Natl. Acad. Sci. U S A 2000, 97, 1796-1801.
48. Marcus N. Y., Perlmutter D. H.: “Glucosidase and mannosidase inhibitor mediate increased secretion of mutant α₁-antitrypsin Z” // Z. J. Biol. Chem., 2000, 275, 1987-1992.
49. Hidvegi T., Ewing M., Hale P. Et al.: “An autophagy-enhancing drug promotes degradation of mutant α1-antitrypsin Z and reduces hepatic fibrosis” // Science, 2010, 329, p. 229-232.
50. Kemmer N., Kaiser T., Zacharias V. et al.: “Alpha-1-antitrypsin deficiency: outcomes after liver transplantation” // Transplant. Proc., 2008, 40, 1492-1494.
51. Vennarecci G., Gunson B. K., Ismail T. et al.: “Transplantation for end stage liver disease related to alpha 1 antitrypsin” // Transplantation, 1996, 61, p. 1488-1495.
52. Van Furth r., Kramps J. A., van der Putten A. B. et al.: “Change in alpha-1-antitrypsin phenotype after orthotopic liver transplant” // Clin. Exp. Immunol., 1986, 66, p. 669.).
Рецензия
Для цитирования:
Власов Н.Н., Корниенко Е.А., Мельник С.И. ЗАБОЛЕВАНИЕ ПЕЧЕНИ У ДЕТЕЙ, ВЫЗВАННОЕ Α1-АНТИТРИПСИНОВОЙ НЕДОСТАТОЧНОСТЬЮ. Экспериментальная и клиническая гастроэнтерология. 2018;(2):89-99.
For citation:
Vlasov N.N., Kornienko E.A., Melnik S.I. LIVER DISEASE IN CHILDREN CAUSED BY Α1-ANTITRYPSIN DEFICIENCY. Experimental and Clinical Gastroenterology. 2018;(2):89-99. (In Russ.)