Deficiencia de alfa-1-antitripsina


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;3:668-682.Texto completo

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

Chapman KR, Stockley RA, Dawkins C, et al. Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis. COPD. 2009;6:177-184. 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;50(5):.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

9. Dummer J, Dobler CC, Holmes M, et al. Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand. Respirology. 2020 Mar;25(3):321-335.Texto completo  Resumen

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

11. Ranes J, Stoller JK. A review of alpha-1 antitrypsin deficiency. Semin Respir Crit Care Med. 2005;26:154-166. Resumen

12. Stoller JK, Aboussouan LS. A review of α1-antitrypsin deficiency. Am J Respir Crit Care Med. 2012 Feb 1;185(3):246-59.Texto completo  Resumen

13. Sveger T. Liver disease in alpha 1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976;294:1316-21. Resumen

14. de Serres FJ, Blanco I, Fernandez-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. Clin Genet. 2003;64:382-97. Resumen

15. de Serres FJ. Worldwide racial and ethnic distribution of alpha-1 antitrypsin deficiency. Chest. 2002;122:1818-29. Resumen

16. Blanco I, de Serres FJ, Cárcaba V, et al. Alpha-1 antitrypsin deficiency PI*Z and PI*S gene frequency distribution using on maps of the world by an inverse distance weighting (IDW) multivariate interpolation method. Hepat Mon. 2012 Oct;12(10):e7434.Texto completo  Resumen

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. Kueppers F, Fallat R, Larson RK. Obstructive lung disease and alpha-1 antitrypsin deficiency gene heterozygosity. Science. 1969;165:899-901. Resumen

19. Kueppers F, Black LF. Alpha-1 antitrypsin and its deficiency. Am Rev Respir Dis. 1974;110:176-194. Resumen

20. Tobin MJ, Cook PJ, Hutchison DC. Alpha-1 antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi-type-Z. A survey by the British Thoracic Association. Br J Dis Chest. 1983;77:14-27. Resumen

21. 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

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

23. Ghishan FK, Gray GF, Greene HL. alpha 1-antitrypsin deficiency presenting with ascites and cirrhosis in the neonatal period. Gastroenterology. 1983 Aug;85(2):435-8. Resumen

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

25. 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.

26. 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

27. 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

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

29. 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

30. 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

31. 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

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

33. Lomas DA, Mahadeva R. Alpha-1 antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest. 2002;110:1585-1590. Resumen

34. Mahadeva R, Shapiro SD. Chronic obstructive pulmonary disease 3: experimental animal models of pulmonary emphysema. Thorax. 2002;57:908-914.Texto completo  Resumen

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

36. 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;3:668-682.Texto completo

37. 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

38. 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

39. 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

40. 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

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

42. 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

43. Global Initiative for Chronic Obstructive Lung Disease (GOLD). Global strategy for prevention, diagnosis and management of COPD: 2023 Report. 2023 [internet publication].Texto completo

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

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

46. 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

47. 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

48. 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

49. 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

50. 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

51. 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

52. 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

53. 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

54. Lomas DA, Evans DL, Finch JT. The mechanism of Z alpha-1 antitrypsin accumulation in the liver. Nature. 1992;357:605-607. Resumen

55. 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

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

57. 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

58. 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

59. 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

60. 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

61. 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

62. Chapman KR, Stockley RA, Dawkins C, et al. Augmentation therapy for alpha1 antitrypsin deficiency: a meta-analysis. COPD. 2009;6:177-184. Resumen

63. 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

64. Stockley RA, Parr DG, Piitulainen E, et al. Therapeutic efficacy of alpha-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry. Respir Res. 2010;11:136-143.Texto completo  Resumen

65. 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

66. 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

67. National Institute for Health and Care Excellence. Chronic obstructive pulmonary disease in over 16s: diagnosis and management. Jul 2019 [internet publication].Texto completo

68. 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

69. Gadek JE, Klein HG, Holland PV, et al. Replacement therapy of alpha 1-antitrypsin deficiency: reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest. 1981;68:1158-1165.Texto completo  Resumen

70. 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

71. Barker AF, Iwata-Morgan I, Oveson L, et al. Pharmacokinetic study of alpha 1-antitrypsin infusion in alpha 1-antitrypsin deficiency. Chest. 1997;112:607-613. Resumen

72. Hubbard RC, Sellers S, Czerski D, et al. Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA. 1988;260:1259-1264. Resumen

73. Yusen RD, Edwards LB, Dipchand AI, et al. The Registry of the International Society for Heart and Lung Transplantation: Thirty-third adult lung and heart-lung transplant report-2016; Focus theme: primary diagnostic indications for transplant. J Heart Lung Transplant. 2016 Oct;35(10):1170-84.Texto completo  Resumen

74. Stone HM, Edgar RG, Thompson RD, et al. Lung transplantation in alpha-1-antitrypsin deficiency. COPD. 2016;13(2):146-52.Texto completo  Resumen

75. Carey EJ, Iyer VN, Nelson DR, et al. Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency–related cirrhosis. Liver Transpl. 2013;19:1370-1376. Resumen

76. Hosenpud JD, Novick RJ, Breen TJ, et al. The registry of the International Society for Heart and Lung Transplanation: twelfth official report. J Heart Lung Transplant. 1995;14:805-815. Resumen

77. Levine SM, Anzueto A, Peters JI, et al. Medium term functional results of single-lung transplantation for end stage obstructive lung disease. Am J Respir Crit Care Med. 1994;150:398-402. Resumen

78. Christie JD, Edwards LB, Kucheryavaya AY, et al. The registry of the International Society for Heart and Lung Transplantation: twenty-eighth adult lung and heart-lung transplant report - 2011. J Heart Lung Transplant. 2011;30:1104-1122.Texto completo  Resumen

79. Hubbard RC, Crystal RG. Strategies for aerosol therapy of alpha 1-antitrypsin deficiency by the aerosol route. Lung. 1990;168 (Suppl):565-578. Resumen

80. Stolk J, Camps J, Feitsma HI, et al. Pulmonary deposition and disappearance of aerosolised secretory leucocyte protease inhibitor. Thorax. 1995;50:645-650. Resumen

81. Gorin AB, Stewart PA. Differential permeability of endothelial and epithelial barriers to albumin flux. J Appl Physiol. 1979;47:1315-1324. Resumen

82. Llewellyn-Jones CG, Lomas DA, Stockley RA. Potential role of recombinant secretory leucoprotease inhibitor in the prevention of neutrophil mediated matrix degradation. Thorax. 1994;49:567-572. Resumen

83. Sandhaus RA. alpha1-Antitrypsin deficiency . 6: new and emerging treatments for alpha1-antitrypsin deficiency. Thorax. 2004 Oct;59(10):904-9.Texto completo  Resumen

84. Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency (ATALANTa): NCT03679598. Jun 2020 [internet publication].Texto completo

85. Kolodka TM, Finehold M, Woo SL. Hepatic gene therapy: efficient retroviral-mediated gene transfer into rat hepatocytes in vivo. Somat Cell Mol Genet. 1993;19:491-497. Resumen

86. Song S, Morgan M, Ellis T, et al. Sustained secretion of human alpha-1 antitrypsin from murine muscle transduced with adeno-associated virus vectors. Proc Natl Acad Sci USA. 1998;95:14384-14388.Texto completo  Resumen

87. 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

88. Wooddell CI, Blomenkamp K, Peterson RM, et al. Development of an RNAi therapeutic for alpha-1-antitrypsin liver disease. JCI Insight. 2020 Jun 18;5(12):.Texto completo  Resumen

89. Stoller JK, Gildea TR, Ries AL, et al. Lung volume reduction surgery in patients with emphysema and alpha-1 antitrypsin deficiency. Ann Thoracic Surg. 2007;83:241-251. Resumen

90. Criner GJ, Delage A, Voelker K, et al. Improving Lung Function in Severe Heterogenous Emphysema with the Spiration Valve System (EMPROVE). A Multicenter, Open-Label Randomized Controlled Clinical Trial. Am J Respir Crit Care Med. 2019 Dec 1;200(11):1354-1362.Texto completo  Resumen

91. Hogarth DK, Delage A, et al. Evaluation of the Safety and Effectiveness of the Spiration Valve System for Single Lobe Treatment of Severe Emphysema in Patients with Alpha-1 Antitrypsin Deficiency. Paper presented at: American Thoracic Society International Conference. 2018. San Diego, United States of America.Texto completo

92. Criner GJ, Sue R, Wright S, et al. A Multicenter Randomized Controlled Trial of Zephyr Endobronchial Valve Treatment in Heterogeneous Emphysema (LIBERATE). Am J Respir Crit Care Med. 2018 Nov 1;198(9):1151-1164.Texto completo  Resumen

93. Dawkins PA, Dowson LJ, Guest PJ, et al. Predictors of mortality in alpha 1-antitrypsin deficiency. Thorax. 2003;58:1020-1026.Texto completo  Resumen

94. Seersholm N, Dirksen A, Kok-Jensen A. Airways obstruction and two-year survival in patients with severe alpha-1 antitrypsin deficiency. Eur Respir J. 1994;7:1985-1987. Resumen

95. Heimbach J, Kulik LM, Finn R, et al. AASLD guidelines for the treatment of hepatocellular carcinoma. Hepatology. 2018 Jan;67(1):358-380.Texto completo  Resumen

96. 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

97. Lhotta K, Vogel W, Meisl T, et al. Alpha1-antitrypsin phenotypes in patients with anti-neutrophil cytoplasmic antibody-positive vasculitis. Clin Sci (Lond). 1994 Dec;87(6):693-5. Resumen

98. Segelmark M, Elzouki AN, Wieslander J, et al. The PiZ gene of alpha1-antitrypsin as a determinant of outcome in PR3-ANCA-positive vasculitis. Kidney Int. 1995 Sep;48(3):844-50. Resumen

El uso de este contenido está sujeto a nuestra cláusula de exención de responsabilidad