Deficiencia de alfa-1-antitripsina

Referencias

Artículos principales

American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003 Oct 1;168(7):818-900.Texto completo  Resumen

Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016 Jun 6;3(3):668-82.Texto completo  Resumen

Marciniuk DD, Hernandez P, Balter M, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012;19:109-116.Texto completo  Resumen

Hill AT, Sullivan AL, Chalmers JD, et al. British Thoracic Society Guideline for bronchiectasis in adults. Thorax. 2019 Jan;74(suppl 1):1-69.Texto completo  Resumen

Fraughen DD, Ghosh AJ, Hobbs BD, et al. Augmentation therapy for severe alpha-1 antitrypsin deficiency improves survival and is decoupled from spirometric decline-A multinational registry analysis. Am J Respir Crit Care Med. 2023 Nov 1;208(9):964-74.Texto completo  Resumen

Artículos de referencia

1. Fagerhol MK, Laurell CB. The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera. Clin Chim Acta. 1967 May;16(2):199-203. Resumen

2. DeMeo DL, Silverman EK. Alpha 1-antitrypsin deficiency. 2: genetic aspects of alpha 1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax. 2004;59:259-64.Texto completo  Resumen

3. Laurell CB, Eriksson S. The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency. Scand J Clin Lab Invest. 1963;15:132-140.

4. Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha 1-antitrypsin deficiency. Am J Med. 1988;84:13-31. Resumen

5. American Thoracic Society/European Respiratory Society Statement. Standards for the diagnosis and management of individuals with alpha 1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003 Oct 1;168(7):818-900.Texto completo  Resumen

6. Turino GM, Barker AF, Brantly ML, et al. Clinical features of individuals with PI*SZ phenotype of alpha-1 antitrypsin deficiency: alpha 1-antitrypsin deficiency registry study group. Am J Respir Crit Care Med. 1996;154:1718-1725. Resumen

7. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α<sub>1</sub>-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610.Texto completo  Resumen

8. Lopes AP, Mineiro MA, Costa F, et al. Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. Pulmonology. 2018 Dec;24 Suppl 1:1-21.Texto completo  Resumen

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10. Wiedemann HP, Stoller JK. Lung disease due to alpha-1 antitrypsin deficiency. Curr Opin Pulm Med. 1996;2:155-160. Resumen

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17. Blanco I, Diego I, Bueno P, et al. Prevalence of α1-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review. Eur Respir Rev. 2020 Sep;29(157): 200014.Texto completo  Resumen

18. Ashenhurst JR, Nhan H, Shelton JF, et al. Prevalence of alpha-1 antitrypsin deficiency, self-reported behavior change, and health care engagement among direct-to-consumer recipients of a personalized genetic risk report. Chest. 2022 Feb;161(2):373-81.Texto completo  Resumen

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22. Seersholm N, Kok-Jensen A, Dirksen A. Decline in FEV1 among patients with severe hereditary alpha-1 antitrypsin deficiency type Pi Z. Am J Respir Crit Care Med. 1995;152:1922-1925. Resumen

23. Larsson C. Natural history and life expectancy in severe alpha 1-antitrypsin deficiency, Pi Z. Acta Med Scand. 1978;204:345-351. Resumen

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25. Sveger T, Eriksson S. The liver in adolescents with alpha 1-antitrypsin deficiency. Hepatology. 1995 Aug;22(2):514-7.Texto completo  Resumen

26. Eriksson S. Alpha 1-antitrypsin deficiency: natural course and therapeutic strategies. In: Boyer J, Blum HE, Maier KP, et al, eds. Cirrhosis and its development. Falk Symposium 115. Dordrecht, Netherlands: Kluwer Academic; 2000:307-315.

27. Hamesch K, Mandorfer M, Pereira VM, et al. Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation. Gastroenterology. 2019 Sep;157(3):705-719.e18.Texto completo  Resumen

28. Clark VC, Marek G, Liu C, et al. Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort. J Hepatol. 2018 Dec;69(6):1357-1364.Texto completo  Resumen

29. Strnad P, McElvaney NG, Lomas DA. Alpha 1-Antitrypsin Deficiency. N Engl J Med. 2020 Apr 9;382(15):1443-55.Texto completo  Resumen

30. Alam S, Li Z, Atkinson C, et al. Z α1-antitrypsin confers a proinflammatory phenotype that contributes to chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 2014;189:909-931. Resumen

31. Molloy K, Hersh CP, Morris VB, et al. Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes. Am J Respir Crit Care Med. 2014;189:419-427.Texto completo  Resumen

32. Sorheim IC, Bakke P, Gulsvik A, et al. Alpha-1 antitrypsin protease inhibitor MZ heterozygosity is associated with airflow disruption in two large cohorts. Chest. 2010;138:1125-1132.Texto completo  Resumen

33. Kopito RR, Ron D. Conformational disease. Nat Cell Biol. 2000;2:E207-E209. Resumen

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36. Shapiro SD. Proteinases in chronic obstructive pulmonary disease. Biochem Soc Trans. 2002:30:98-102. Resumen

37. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami). 2016 Jun 6;3(3):668-82.Texto completo  Resumen

38. Marciniuk DD, Hernandez P, Balter M, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012;19:109-116.Texto completo  Resumen

39. Hill AT, Sullivan AL, Chalmers JD, et al. British Thoracic Society Guideline for bronchiectasis in adults. Thorax. 2019 Jan;74(suppl 1):1-69.Texto completo  Resumen

40. Silverman EK, Miletich JP, Pierce JA, et al. Alpha-1 antitrypsin deficiency: high prevalence in the St. Louis area determined by direct population screening. Am Rev Respir Dis. 1989;140:961-966. Resumen

41. Stoller JK, Smith P, Yang P, et al. Physical and social impact of alpha-1 antitrypsin deficiency: results of a survey. Cleve Clin J Med. 1994;61:461-467. Resumen

42. World Health Organization. Alpha-1 antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75:397-415. Resumen

43. Eriksson S, Carlson J, Velez R. Risks for cirrhosis and primary liver cancer in alpha-1 antitrypsin deficiency. N Engl J Med. 1986;314:736-739. Resumen

44. Global Initiative for Chronic Obstructive Lung Disease (GOLD). Global strategy for prevention, diagnosis and management of COPD: 2024 report. 2024 [internet publication].Texto completo

45. Janus ED, Phillips NT, Carrell RW. Smoking, lung function, and alpha-1-antitrypsin deficiency. Lancet. 1985;1:152-4. Resumen

46. Wu MC, Eriksson S. Lung function, smoking and survival in severe alpha 1-antitrypsin deficiency, PiZZ. J Clin Epidemiol. 1988;41:1157-1165. Resumen

47. Piitulainen E, Eriksson S. Decline in FEV1 related to smoking status in individuals with severe alpha-1 antitrypsin deficiency (PiZZ). Eur Respir J. 1999;13:247-251.Texto completo  Resumen

48. Piitulainen E, Tornling G, Eriksson S. Effect of age and occupational exposure to airway irritants on lung function in non-smoking individuals with alpha-1 antitrypsin deficiency (PiZZ). Thorax. 1997;52:244-248.Texto completo  Resumen

49. Piitulainen E, Tornling G, Eriksson S. Environmental correlates of impaired lung function in non-smokers with severe alpha-1 antitrypsin deficiency (PiZZ). Thorax. 1998;53:939-943.Texto completo  Resumen

50. Silverman EK, Pierce JA, Province MA, et al. Variability of pulmonary function in alpha-1 antitrypsin deficiency: clinical correlates. Ann Intern Med. 1989;111:982-991. Resumen

51. Piitulainen E, Sveger T. Effect of environmental and clinical factors on lung function and respiratory symptoms in adolescents with alpha-1 antitrypsin deficiency. Acta Paediatr. 1998;87:1120-1124. Resumen

52. Guillaud O, Dumortier J, Couchonnal-Bedoya E, et al. Wilson disease and alpha1-antitrypsin deficiency: a review of non-invasive diagnostic tests. Diagnostics (Basel). 2023 Jan 10;13(2):256.Texto completo  Resumen

53. Clark VC, Dhanasekaran R, Brantly M, et al. Liver test results do not identify liver disease in adults with alpha-1 antitrypsin deficiency. Clin Gastroenterol Hepatol. 2012;10:1278-1283. Resumen

54. McElvaney NG, Stoller JK, Buist AS, et al. Alpha-1 antitrypsin deficiency study group. Baseline characteristics of enrollees in the National Heart, Lung, and Blood Institute Registry of alpha-1 antitrypsin deficiency. Chest. 1997;111:394-403. Resumen

55. Eden E, Mitchell D, Mehlman B, et al. Atopy, asthma and emphysema in patients with severe alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 1997 Jul;156(1):68-74. Resumen

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57. Seersholm N, Kok-Jensen A, Dirksen A. Survival of patients with severe alpha-1 antitrypsin deficiency with special reference to non-index cases. Thorax. 1994;49:695-698.Texto completo  Resumen

58. Siri D, Farah H, Hogarth DK. Distinguishing alpha1-antitrypsin deficiency from asthma. Ann Allergy Asthma Immunol. 2013;111:458-464. Resumen

59. American Thoracic Society. Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease. Am J Resp Crit Care Med. 1995;152(suppl):S77-S121. Resumen

60. Dirksen A, Dijkman JH, Madsen F, et al. A randomized clinical trial of alpha 1-antitrypsin augmentation therapy. Am J Respir Crit Care Med. 1999;160:1468-1472. Resumen

61. Alpha-1-Antitrypsin Deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha 1-antitrypsin. Am J Respir Crit Care Med. 1998;158:49-59. Resumen

62. Wencker M, Banik N, Buhl R, et al. Long-term treatment of alpha 1-antitrypsin deficiency-related pulmonary emphysema with human alpha 1-antitrypsin. Eur Respir J. 1998;11:428-433.Texto completo  Resumen

63. Seersholm N, Wencker M, Banik N, et al; Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha 1-AT study group. Does alpha 1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha 1-antitrypsin deficiency? Eur Respir J. 1997;10:2260-2263.Texto completo  Resumen

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65. Gøtzsche PC, Johansen HK. Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease. Cochrane Database Syst Rev. 2016 Sep 20;9:CD007851.Texto completo  Resumen

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67. Barros-Tizon JC, Torres ML, Blanco I, et al; Investigators of the rEXA Study Group. Reduction of severe exacerbations and hospitalization-derived costs in alpha-1-antitrypsin-deficient patients treated with alpha-1-antitrypsin augmentation therapy. Ther Adv Respir Dis. 2012;6:67-78. Resumen

68. Mohanka M, Khemasuwan D, Stoller JK. A review of augmentation therapy for alpha-1 antitrypsin deficiency. Expert Opin Biol Ther. 2012;12:685-700. Resumen

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70. Chapman KR, Burdon JG, Piitulainen E, et al; RAPID Trial Study Group. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386:360-368. Resumen

71. Fraughen DD, Ghosh AJ, Hobbs BD, et al. Augmentation therapy for severe alpha-1 antitrypsin deficiency improves survival and is decoupled from spirometric decline-A multinational registry analysis. Am J Respir Crit Care Med. 2023 Nov 1;208(9):964-74.Texto completo  Resumen

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73. Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med. 1987;316:1055-1062. Resumen

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91. Narayanan P, Mistry PK. Update on Alpha-1 Antitrypsin Deficiency in Liver Disease. Clin Liver Dis (Hoboken). 2020 Jun;15(6):228-235.Texto completo  Resumen

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100. Elzouki AN, Segelmark M, Wieslander J, et al. Strong link between the alpha1-antitrypsin PiZ allele and Wegener's granulomatosis. J Intern Med. 1994 Nov;236(5):543-8. Resumen

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