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Volumn 2, Issue 2, 2005, Pages 263-275

A review of alpha-1 antitrypsin deficiency

Author keywords

Alpha 1 antitrypsin; Alpha 1 antitrypsin deficiency; Chronic obstructive pulmonary disease; Epidemiology; Pathophysiology; Pulmonary emphysema; Therapy

Indexed keywords

ALPHA 1 ANTITRYPSIN; ANTIINFLAMMATORY AGENT; BRONCHODILATING AGENT; HYALURONIC ACID; LEUKOCYTE ELASTASE; LEUKOCYTE ELASTASE INHIBITOR; ZEMAIRA;

EID: 22244489354     PISSN: 15412555     EISSN: 15412563     Source Type: Journal    
DOI: 10.1081/COPD-57602     Document Type: Review
Times cited : (36)

References (97)
  • 1
    • 0343343009 scopus 로고
    • Warm hearts in a cold land
    • Kiernan V. Warm hearts in a cold land. New Sci 1995:10.
    • (1995) New Sci , vol.10
    • Kiernan, V.1
  • 2
    • 0031974454 scopus 로고    scopus 로고
    • The long suffering of Frederic Chopin
    • Kubba AK, Young M. The long suffering of Frederic Chopin. Chest 1998; 113:210-216.
    • (1998) Chest , vol.113 , pp. 210-216
    • Kubba, A.K.1    Young, M.2
  • 3
    • 84907041622 scopus 로고
    • The electrophoretic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiency
    • Laurell CB, Eriksson S. The electrophoretic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiency. Scand J Clin Lab Invest 1963; 15:132-140.
    • (1963) Scand J Clin Lab Invest , vol.15 , pp. 132-140
    • Laurell, C.B.1    Eriksson, S.2
  • 4
    • 0013828812 scopus 로고
    • Studies in alpha 1-antitrypsin deficiency
    • Eriksson S. Studies in alpha 1-antitrypsin deficiency. Acta Med Scand, Suppl 1965; 432:1-85.
    • (1965) Acta Med Scand, Suppl , vol.432 , pp. 1-85
    • Eriksson, S.1
  • 5
    • 0024558667 scopus 로고
    • Alpha 1-antitrypsin deficiency: Lessons learned from the bedside to the gene and back again. Historic perspectives
    • Eriksson S. Alpha 1-antitrypsin deficiency: lessons learned from the bedside to the gene and back again. Historic perspectives. Chest 1989; 95:181-189.
    • (1989) Chest , vol.95 , pp. 181-189
    • Eriksson, S.1
  • 6
    • 0014530551 scopus 로고
    • Cirrhosis associated with alpha-1-antitrypsin deficiency: A previously unrecognized inherited disorder
    • Sharp HL, Bridges RA, Krivit W, Freier EF. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med 1969; 73:934-939.
    • (1969) J Lab Clin Med , vol.73 , pp. 934-939
    • Sharp, H.L.1    Bridges, R.A.2    Krivit, W.3    Freier, E.F.4
  • 7
    • 0027989694 scopus 로고
    • Physical and genetic mapping of the serpin gene cluster at 14q32.1: Allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency
    • Byth BC, Billingsley GD, Cox DW. Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. Am J Hum Genet 1994; 55:126-133.
    • (1994) Am J Hum Genet , vol.55 , pp. 126-133
    • Byth, B.C.1    Billingsley, G.D.2    Cox, D.W.3
  • 8
    • 0022257475 scopus 로고
    • DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z
    • Cox DW, Woo SL, Mansfield T. DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature 1985; 316:79-81.
    • (1985) Nature , vol.316 , pp. 79-81
    • Cox, D.W.1    Woo, S.L.2    Mansfield, T.3
  • 9
    • 0035129485 scopus 로고    scopus 로고
    • Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: Insights into the natural history of the alpha1-antitrypsin polymorphism
    • Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, Rocha J. Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism. Hum Genet 2001; 108:20-30.
    • (2001) Hum Genet , vol.108 , pp. 20-30
    • Seixas, S.1    Garcia, O.2    Trovoada, M.J.3    Santos, M.T.4    Amorim, A.5    Rocha, J.6
  • 10
    • 0022638237 scopus 로고
    • Alpha 1-antitrypsin Pi-types in 965 COPD patients
    • Lieberman J, Winter B, Sastre A. Alpha 1-antitrypsin Pi-types in 965 COPD patients. Chest 1986; 89:370-373.
    • (1986) Chest , vol.89 , pp. 370-373
    • Lieberman, J.1    Winter, B.2    Sastre, A.3
  • 11
    • 0036433482 scopus 로고    scopus 로고
    • Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys
    • de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 2002; 122:1818-1829.
    • (2002) Chest , vol.122 , pp. 1818-1829
    • De Serres, F.J.1
  • 12
    • 0025776716 scopus 로고
    • Characterization of proteinase-3 (PR-3), a neutrophil serine proteinase. Structural and functional properties
    • Rao NV, Wehner NG, Marshall BC, Gray WR, Gray BH, Hoidal JR. Characterization of proteinase-3 (PR-3), a neutrophil serine proteinase. Structural and functional properties. J Biol Chem 1991; 266:9540-9548.
    • (1991) J Biol Chem , vol.266 , pp. 9540-9548
    • Rao, N.V.1    Wehner, N.G.2    Marshall, B.C.3    Gray, W.R.4    Gray, B.H.5    Hoidal, J.R.6
  • 14
    • 0027999955 scopus 로고
    • Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn → Asp)
    • Bruce D, Perry DJ, Borg JY, Carrell RW, Wardell MR. Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn → Asp). J Clin Invest 1994; 94:2265-2274.
    • (1994) J Clin Invest , vol.94 , pp. 2265-2274
    • Bruce, D.1    Perry, D.J.2    Borg, J.Y.3    Carrell, R.W.4    Wardell, M.R.5
  • 15
    • 0027923966 scopus 로고
    • A hinge region mutation in C1-inhibitor (Ala436 → Thr) results in nonsubstrate-like behavior and in polymerization of the molecule
    • Aulak KS, Eldering E, Hack CE, Lubbers YP, Harrison RA, Mast A, Cicardi M, Davis AE III. A hinge region mutation in C1-inhibitor (Ala436 → Thr) results in nonsubstrate-like behavior and in polymerization of the molecule. J Biol Chem 1993; 268:18088-18094.
    • (1993) J Biol Chem , vol.268 , pp. 18088-18094
    • Aulak, K.S.1    Eldering, E.2    Hack, C.E.3    Lubbers, Y.P.4    Harrison, R.A.5    Mast, A.6    Cicardi, M.7    Davis III, A.E.8
  • 17
    • 0034969249 scopus 로고    scopus 로고
    • Prevention of polymerization of M and Z alpha1-Antitrypsin (alpha1-AT) with trimethylamine N-oxide. Implications for the treatment of alpha1-at deficiency
    • Devlin GL, Parfrey H, Tew DJ, Lomas DA, Bottomley SP. Prevention of polymerization of M and Z alpha1-Antitrypsin (alpha1-AT) with trimethylamine N-oxide. Implications for the treatment of alpha1-at deficiency. Am J Respir Cell Mol Biol 2001; 24:727-732.
    • (2001) Am J Respir Cell Mol Biol , vol.24 , pp. 727-732
    • Devlin, G.L.1    Parfrey, H.2    Tew, D.J.3    Lomas, D.A.4    Bottomley, S.P.5
  • 18
    • 4143133190 scopus 로고    scopus 로고
    • Inhibiting polymerization: New therapeutic strategies for Z alpha1-antitrypsin-related emphysema
    • Parfrey H, Dafforn TR, Belorgey D, Lomas DA, Mahadeva R. Inhibiting polymerization: new therapeutic strategies for Z alpha1-antitrypsin-related emphysema. Am J Respir Cell Mol Biol 2004; 31:133-139.
    • (2004) Am J Respir Cell Mol Biol , vol.31 , pp. 133-139
    • Parfrey, H.1    Dafforn, T.R.2    Belorgey, D.3    Lomas, D.A.4    Mahadeva, R.5
  • 19
    • 0018128288 scopus 로고
    • Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z
    • Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand 1978; 204:345-351.
    • (1978) Acta Med Scand , vol.204 , pp. 345-351
    • Larsson, C.1
  • 20
    • 0020678269 scopus 로고
    • 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
    • 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.
    • (1983) Br J Dis Chest , vol.77 , pp. 14-27
    • Tobin, M.J.1    Cook, P.J.2    Hutchison, D.C.3
  • 21
    • 0021960082 scopus 로고
    • Smoking, lung function, and alpha 1-antitrypsin deficiency
    • Janus ED, Phillips NT, Carrell RW. Smoking, lung function, and alpha 1-antitrypsin deficiency. Lancet 1985; 1:152-154.
    • (1985) Lancet , vol.1 , pp. 152-154
    • Janus, E.D.1    Phillips, N.T.2    Carrell, R.W.3
  • 24
    • 0037133110 scopus 로고    scopus 로고
    • Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: A longitudinal study of the general population
    • Dahl M, Tybjaerg-Hansen A, Lange P, Vestbo J, Nordestgaard BG. Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: a longitudinal study of the general population. Ann Intern Med 2002; 136:270-279.
    • (2002) Ann Intern Med , vol.136 , pp. 270-279
    • Dahl, M.1    Tybjaerg-Hansen, A.2    Lange, P.3    Vestbo, J.4    Nordestgaard, B.G.5
  • 25
    • 0033979879 scopus 로고    scopus 로고
    • Risk of hospital admission for obstructive pulmonary disease in alpha(1)-antitrypsin heterozygotes of phenotype PiMZ
    • Seersholm N, Wilcke JT, Kok-Jensen A, Dirksen A. Risk of hospital admission for obstructive pulmonary disease in alpha(1)-antitrypsin heterozygotes of phenotype PiMZ. Am J Respir Crit Care Med 2000; 161:81-84.
    • (2000) Am J Respir Crit Care Med , vol.161 , pp. 81-84
    • Seersholm, N.1    Wilcke, J.T.2    Kok-Jensen, A.3    Dirksen, A.4
  • 26
    • 0022637178 scopus 로고
    • Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency
    • Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med 1986; 314:736-739.
    • (1986) N Engl J Med , vol.314 , pp. 736-739
    • Eriksson, S.1    Carlson, J.2    Velez, R.3
  • 27
    • 0029974035 scopus 로고    scopus 로고
    • Risk of hepatobiliary disease in adults with severe alpha 1-antitrypsin deficiency (PiZZ): Is chronic viral hepatitis B or C an additional risk factor for cirrhosis and hepatocellular carcinoma?
    • Elzouki AN, Eriksson S. Risk of hepatobiliary disease in adults with severe alpha 1-antitrypsin deficiency (PiZZ): is chronic viral hepatitis B or C an additional risk factor for cirrhosis and hepatocellular carcinoma? Eur J Gastroenterol Hepatol 1996; 8:989-994.
    • (1996) Eur J Gastroenterol Hepatol , vol.8 , pp. 989-994
    • Elzouki, A.N.1    Eriksson, S.2
  • 28
    • 0014500823 scopus 로고
    • Alpha1-antitrypsin deficiency, emphysema, necrotizing angiitis and glomerulonephritis
    • Miller F, Kuschner M. Alpha1-antitrypsin deficiency, emphysema, necrotizing angiitis and glomerulonephritis. Am J Med 1969; 46:615-623.
    • (1969) Am J Med , vol.46 , pp. 615-623
    • Miller, F.1    Kuschner, M.2
  • 29
    • 0017233953 scopus 로고
    • Membranoproliferative glomerulonephritis in childhood cirrhosis associated with alpha1-antitrypsin deficiency
    • Moroz SP, Cutz E, Balfe JW, Sass-Kortsak A. Membranoproliferative glomerulonephritis in childhood cirrhosis associated with alpha1-antitrypsin deficiency. Pediatrics 1976; 57:232-238.
    • (1976) Pediatrics , vol.57 , pp. 232-238
    • Moroz, S.P.1    Cutz, E.2    Balfe, J.W.3    Sass-Kortsak, A.4
  • 30
    • 0022243987 scopus 로고
    • Severe deficiency of alpha 1-antitrypsin associated with cutaneous vasculitis, rapidly progressive glomerulonephritis, and colitis
    • Lewis M, Kallenbach J, Zaltzman M, Levy H, Lurie D, Baynes R, King P, Meyers A. Severe deficiency of alpha 1-antitrypsin associated with cutaneous vasculitis, rapidly progressive glomerulonephritis, and colitis. Am J Med 1985; 79:489-494.
    • (1985) Am J Med , vol.79 , pp. 489-494
    • Lewis, M.1    Kallenbach, J.2    Zaltzman, M.3    Levy, H.4    Lurie, D.5    Baynes, R.6    King, P.7    Meyers, A.8
  • 31
    • 0026333506 scopus 로고
    • Alpha-1 antitrypsin deficiency and systemic necrotizing vasculitis
    • Fortin PR, Fraser RS, Watts CS, Esdaile JM. Alpha-1 antitrypsin deficiency and systemic necrotizing vasculitis. J Rheumatol 1991; 18:1613-1616.
    • (1991) J Rheumatol , vol.18 , pp. 1613-1616
    • Fortin, P.R.1    Fraser, R.S.2    Watts, C.S.3    Esdaile, J.M.4
  • 32
    • 0028991470 scopus 로고
    • Henoch-Schonlein purpura and alpha 1-antitrypsin deficiency
    • Elzouki AN, Sterner G, Eriksson S. Henoch-Schonlein purpura and alpha 1-antitrypsin deficiency. Nephrol Dial Transplant 1995; 10:1454-1457.
    • (1995) Nephrol Dial Transplant , vol.10 , pp. 1454-1457
    • Elzouki, A.N.1    Sterner, G.2    Eriksson, S.3
  • 33
    • 0027137451 scopus 로고
    • Alpha-1-proteinase inhibitor and pulmonary haemorrhage in systemic vasculitis
    • O'Donoghue DJ, Guickian M, Blundell G, Winney RJ. Alpha-1-proteinase inhibitor and pulmonary haemorrhage in systemic vasculitis. Adv Exp Med Biol 1993; 336:331-335.
    • (1993) Adv Exp Med Biol , vol.336 , pp. 331-335
    • O'Donoghue, D.J.1    Guickian, M.2    Blundell, G.3    Winney, R.J.4
  • 35
    • 0028173310 scopus 로고
    • Strong link between the alpha 1-antitrypsin PiZ allele and Wegener's granulomatosis
    • Elzouki AN, Segelmark M, Wieslander J, Eriksson S. Strong link between the alpha 1-antitrypsin PiZ allele and Wegener's granulomatosis. J Intern Med 1994; 236:543-548.
    • (1994) J Intern Med , vol.236 , pp. 543-548
    • Elzouki, A.N.1    Segelmark, M.2    Wieslander, J.3    Eriksson, S.4
  • 36
    • 0028171124 scopus 로고
    • Alpha 1-antitrypsin phenotypes in patients with antineutrophil cytoplasmic antibody-positive vasculitis
    • Lhotta K, Vogel W, Meisl T, Buxbaum M, Neyer U, Sandholzer C, Konig P. Alpha 1-antitrypsin phenotypes in patients with antineutrophil cytoplasmic antibody-positive vasculitis. Clin Sci (Lond) 1994; 87:693-695.
    • (1994) Clin Sci (Lond) , vol.87 , pp. 693-695
    • Lhotta, K.1    Vogel, W.2    Meisl, T.3    Buxbaum, M.4    Neyer, U.5    Sandholzer, C.6    Konig, P.7
  • 37
    • 0029925466 scopus 로고    scopus 로고
    • C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele
    • Griffith ME, Lovegrove JU, Gaskin G, Whitehouse DB, Pusey CD. C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele. Nephrol Dial Transplant 1996; 11:438-443.
    • (1996) Nephrol Dial Transplant , vol.11 , pp. 438-443
    • Griffith, M.E.1    Lovegrove, J.U.2    Gaskin, G.3    Whitehouse, D.B.4    Pusey, C.D.5
  • 38
    • 0029847284 scopus 로고    scopus 로고
    • Complexes between proteinase 3, alpha 1-antitrypsin and proteinase 3 anti-neutrophil cytoplasm autoantibodies: A comparison between alpha 1-antitrypsin PiZ allele carriers and non-carriers with Wegener's granulomatosis
    • Baslund B, Szpirt W, Eriksson S, Elzouki AN, Wiik A, Wieslander J, Petersen J. Complexes between proteinase 3, alpha 1-antitrypsin and proteinase 3 anti-neutrophil cytoplasm autoantibodies: a comparison between alpha 1-antitrypsin PiZ allele carriers and non-carriers with Wegener's granulomatosis. Eur J Clin Investigig 1996; 26:786-792.
    • (1996) Eur J Clin Investigig , vol.26 , pp. 786-792
    • Baslund, B.1    Szpirt, W.2    Eriksson, S.3    Elzouki, A.N.4    Wiik, A.5    Wieslander, J.6    Petersen, J.7
  • 39
    • 0028990371 scopus 로고
    • Alpha 1-antitrypsin deficiency and anti-proteinase 3 antibodies in anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitis
    • Savige JA, Chang L, Cook L, Burdon J, Daskalakis M, Doery J. Alpha 1-antitrypsin deficiency and anti-proteinase 3 antibodies in anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitis. Clin Exp Immunol 1995; 100:194-197.
    • (1995) Clin Exp Immunol , vol.100 , pp. 194-197
    • Savige, J.A.1    Chang, L.2    Cook, L.3    Burdon, J.4    Daskalakis, M.5    Doery, J.6
  • 40
    • 0029144094 scopus 로고
    • The PiZ gene of alpha 1-antitrypsin as a determinant of outcome in PR3-ANCA-positive vasculitis
    • Segelmark M, Elzouki AN, Wieslander J, Eriksson S. The PiZ gene of alpha 1-antitrypsin as a determinant of outcome in PR3-ANCA-positive vasculitis. Kidney Int 1995; 48:844-850.
    • (1995) Kidney Int , vol.48 , pp. 844-850
    • Segelmark, M.1    Elzouki, A.N.2    Wieslander, J.3    Eriksson, S.4
  • 41
    • 6844239519 scopus 로고    scopus 로고
    • Alpha-1-antitrypsin phenotyping in ANCA-associated diseases: One of several arguments for protease/antiprotease imbalance in systemic vasculitis
    • Esnault VL, Audrain MA, Sesboue R. Alpha-1-antitrypsin phenotyping in ANCA-associated diseases: one of several arguments for protease/antiprotease imbalance in systemic vasculitis. Exp Clin Immunogenet 1997; 14:206-213.
    • (1997) Exp Clin Immunogenet , vol.14 , pp. 206-213
    • Esnault, V.L.1    Audrain, M.A.2    Sesboue, R.3
  • 42
    • 0029925466 scopus 로고    scopus 로고
    • C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele
    • Griffith ME, Lovegrove JU, Gaskin G, Whitehouse DB, Pusey CD. C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele. Nephrol Dial Transplant 1996; 11:438-443.
    • (1996) Nephrol Dial Transplant , vol.11 , pp. 438-443
    • Griffith, M.E.1    Lovegrove, J.U.2    Gaskin, G.3    Whitehouse, D.B.4    Pusey, C.D.5
  • 45
    • 2442656372 scopus 로고    scopus 로고
    • Membrane proteinase 3 expression and ANCA-induced neutrophil activation
    • Schreiber A, Luft FC, Kettritz R. Membrane proteinase 3 expression and ANCA-induced neutrophil activation. Kidney Int 2004; 65:2172-2183.
    • (2004) Kidney Int , vol.65 , pp. 2172-2183
    • Schreiber, A.1    Luft, F.C.2    Kettritz, R.3
  • 46
    • 0035173186 scopus 로고    scopus 로고
    • Analysis of anti-neutrophil cytoplasmic antibodies (ANCA): Frequency and specificity in a sample of 191 homozygous (PiZZ) alpha1-antitrypsin-deficient subjects
    • Audrain MA, Sesboue R, Baranger TA, Elliott J, Testa A, Martin JP, Lockwood CM, Esnault VL. Analysis of anti-neutrophil cytoplasmic antibodies (ANCA): frequency and specificity in a sample of 191 homozygous (PiZZ) alpha1-antitrypsin-deficient subjects. Nephrol Dial Transplant 2001; 16:39-44.
    • (2001) Nephrol Dial Transplant , vol.16 , pp. 39-44
    • Ma, A.1    Sesboue, R.2    Baranger, T.A.3    Elliott, J.4    Testa, A.5    Martin, J.P.6    Lockwood, C.M.7    Esnault, V.L.8
  • 47
    • 0026551587 scopus 로고
    • High resolution computed tomography (HRCT) in emphysema associated with alpha-1-antitrypsin deficiency
    • Guest PJ, Hansell DM. High resolution computed tomography (HRCT) in emphysema associated with alpha-1-antitrypsin deficiency. Clin Radiol 1992; 45:260-266.
    • (1992) Clin Radiol , vol.45 , pp. 260-266
    • Guest, P.J.1    Hansell, D.M.2
  • 50
    • 0141706635 scopus 로고    scopus 로고
    • Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
    • 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; 168:818-900.
    • (2003) Am J Respir Crit Care Med , vol.168 , pp. 818-900
  • 52
    • 0031027927 scopus 로고    scopus 로고
    • Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency
    • Alpha 1-Antitrypsin Deficiency Registry Study Group
    • McElvaney NG, Stoller JK, Buist AS, Prakash UB, Brantly ML, Schluchter MD, Crystal RD. Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. Chest 1997; 111:394-403.
    • (1997) Chest , vol.111 , pp. 394-403
    • McElvaney, N.G.1    Stoller, J.K.2    Buist, A.S.3    Prakash, U.B.4    Brantly, M.L.5    Schluchter, M.D.6    Crystal, R.D.7
  • 54
    • 0026326794 scopus 로고
    • Alpha 1-antitrypsin deficiency-associated panniculitis: Case report and review of the literature
    • Edmonds BK, Hodge JA, Rietschel RL. Alpha 1-antitrypsin deficiency-associated panniculitis: case report and review of the literature. Pediatr Dermatol 1991; 8:296-299.
    • (1991) Pediatr Dermatol , vol.8 , pp. 296-299
    • Edmonds, B.K.1    Hodge, J.A.2    Rietschel, R.L.3
  • 56
    • 0028543862 scopus 로고
    • Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey
    • Stoller JK, Smith P, Yang P, Spray J. Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey. Clevel Clin J Med 1994; 61:461-467.
    • (1994) Clevel Clin J Med , vol.61 , pp. 461-467
    • Stoller, J.K.1    Smith, P.2    Yang, P.3    Spray, J.4
  • 57
    • 0025056573 scopus 로고
    • Long-term follow-up of a cohort of children with alpha-1-antitrypsin deficiency
    • Wall M, Moe E, Eisenberg J, Powers M, Buist N, Buist AS. Long-term follow-up of a cohort of children with alpha-1-antitrypsin deficiency. J Pediatr 1990; 116:248-251.
    • (1990) J Pediatr , vol.116 , pp. 248-251
    • Wall, M.1    Moe, E.2    Eisenberg, J.3    Powers, M.4    Buist, N.5    Buist, A.S.6
  • 58
    • 0028152940 scopus 로고
    • Lung function in adolescents with alpha 1-antitrypsin deficiency
    • Sveger T, Piitulainen E, Arborelius M Jr. Lung function in adolescents with alpha 1-antitrypsin deficiency. Acta Paediatr 1994; 83:1170-1173.
    • (1994) Acta Paediatr , vol.83 , pp. 1170-1173
    • Sveger, T.1    Piitulainen, E.2    Arborelius Jr., M.3
  • 59
    • 0023795389 scopus 로고
    • Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms
    • Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 1988; 138:327-336.
    • (1988) Am Rev Respir Dis , vol.138 , pp. 327-336
    • Brantly, M.L.1    Paul, L.D.2    Miller, B.H.3    Falk, R.T.4    Wu, M.5    Crystal, R.G.6
  • 60
    • 0024211686 scopus 로고
    • Lung function, smoking and survival in severe alpha 1-antitrypsin deficiency, PiZZ
    • Wu MC, Eriksson S. Lung function, smoking and survival in severe alpha 1-antitrypsin deficiency, PiZZ. J Clin Epidemiol 1988; 41:1157-1165.
    • (1988) J Clin Epidemiol , vol.41 , pp. 1157-1165
    • Wu, M.C.1    Eriksson, S.2
  • 61
    • 0020669992 scopus 로고
    • The natural history of air-flow obstruction in PiZ emphysema. Report of an NHLBI workshop
    • Buist AS, Burrows B, Eriksson S, Mittman C, Wu M. The natural history of air-flow obstruction in PiZ emphysema. Report of an NHLBI workshop. Am Rev Respir Dis 1983; 127:843-345.
    • (1983) Am Rev Respir Dis , vol.127 , pp. 843-1345
    • Buist, A.S.1    Burrows, B.2    Eriksson, S.3    Mittman, C.4    Wu, M.5
  • 62
    • 0025362184 scopus 로고
    • Criteria for alpha 1-antitrypsin substitution
    • Viskum K, Kok-Jensen A. Criteria for alpha 1-antitrypsin substitution. Lung 1990; 168(suppl):586-591.
    • (1990) Lung , vol.168 , Issue.SUPPL. , pp. 586-591
    • Viskum, K.1    Kok-Jensen, A.2
  • 63
    • 0032586927 scopus 로고    scopus 로고
    • Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ)
    • Piitulainen E, Eriksson S. Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ). Eur Respir J 1999; 13:247-251.
    • (1999) Eur Respir J , vol.13 , pp. 247-251
    • Piitulainen, E.1    Eriksson, S.2
  • 64
    • 0027941322 scopus 로고
    • A registry of patients with severe deficiency of alpha 1-antitrypsin. Design and methods
    • The Alpha 1-Antitrypsin Deficiency Registry Study Group
    • A registry of patients with severe deficiency of alpha 1-antitrypsin. Design and methods. The Alpha 1-Antitrypsin Deficiency Registry Study Group. Chest 1994; 106:1223-1232.
    • (1994) Chest , vol.106 , pp. 1223-1232
  • 65
    • 0032110436 scopus 로고    scopus 로고
    • Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin
    • The Alpha-1-Antitrypsin Deficiency Registry Study Group
    • Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med 1998; 158:49-59.
    • (1998) Am J Respir Crit Care Med , vol.158 , pp. 49-59
  • 66
    • 0023899080 scopus 로고
    • Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency
    • Hubbard RC, Crystal RG. Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency. Am J Med 1988; 84:52-62.
    • (1988) Am J Med , vol.84 , pp. 52-62
    • Hubbard, R.C.1    Crystal, R.G.2
  • 68
    • 0030610568 scopus 로고    scopus 로고
    • Pharmacokinetic study of alpha1-antitrypsin infusion in alpha1-antitrypsin deficiency
    • Barker AF, Iwata-Morgan I, Oveson L, Roussel R. Pharmacokinetic study of alpha1-antitrypsin infusion in alpha1-antitrypsin deficiency. Chest 1997: 112:607-613.
    • (1997) Chest , vol.112 , pp. 607-613
    • Barker, A.F.1    Iwata-Morgan, I.2    Oveson, L.3    Roussel, R.4
  • 69
    • 0023784904 scopus 로고
    • Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency
    • Hubbard RC, Sellers S, Czerski D, Stephens L, Crystal RG. Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA 1988; 260:1259-1264.
    • (1988) JAMA , vol.260 , pp. 1259-1264
    • Hubbard, R.C.1    Sellers, S.2    Czerski, D.3    Stephens, L.4    Crystal, R.G.5
  • 71
    • 0034523704 scopus 로고    scopus 로고
    • Short-term supplementation therapy does not affect elastin degradation in severe alpha(1)-antitrypsin deficiency
    • The American-Italian AATD Study Group
    • Gottlieb DJ, Luisetti M, Stone PJ, Allegra L, Cantey-Kiser JM, Grassi C, Snider GL. Short-term supplementation therapy does not affect elastin degradation in severe alpha(1)-antitrypsin deficiency. The American-Italian AATD Study Group. Am J Respir Crit Care Med 2000; 162:2069-2072.
    • (2000) Am J Respir Crit Care Med , vol.162 , pp. 2069-2072
    • Gottlieb, D.J.1    Luisetti, M.2    Stone, P.J.3    Allegra, L.4    Cantey-Kiser, J.M.5    Grassi, C.6    Snider, G.L.7
  • 72
    • 0031242842 scopus 로고    scopus 로고
    • Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency?
    • Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group
    • Seersholm N, Wencker M, Banik N, Viskum K, Dirksen A, Kok-Jensen A, Konietzko N. Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group. Eur Respir J 1997; 10:2260-2263.
    • (1997) Eur Respir J , vol.10 , pp. 2260-2263
    • Seersholm, N.1    Wencker, M.2    Banik, N.3    Viskum, K.4    Dirksen, A.5    Kok-Jensen, A.6    Konietzko, N.7
  • 73
    • 0035095548 scopus 로고    scopus 로고
    • Longitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitor
    • Wencker M, Fuhrmann B, Banik N, Konietzko N. Longitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitor. Chest 2001; 119:737-744.
    • (2001) Chest , vol.119 , pp. 737-744
    • Wencker, M.1    Fuhrmann, B.2    Banik, N.3    Konietzko, N.4
  • 75
    • 0031593555 scopus 로고    scopus 로고
    • Long-term therapy of alpha 1-antitrypsin-deficiency-associated pulmonary emphysema with human alpha 1-antitrypsin
    • Wencker M, Banik N, Buhl R, Seidel R, Konietzko N. Long-term therapy of alpha 1-antitrypsin-deficiency-associated pulmonary emphysema with human alpha 1-antitrypsin. Pneumologie 1998; 52:545-552.
    • (1998) Pneumologie , vol.52 , pp. 545-552
    • Wencker, M.1    Banik, N.2    Buhl, R.3    Seidel, R.4    Konietzko, N.5
  • 77
    • 0141558799 scopus 로고    scopus 로고
    • Major components of the direct medical costs of alpha1-antitrypsin deficiency
    • Mullins CD, Wang J, Stoller JK. Major components of the direct medical costs of alpha1-antitrypsin deficiency. Chest 2003; 124:826-831.
    • (2003) Chest , vol.124 , pp. 826-831
    • Mullins, C.D.1    Wang, J.2    Stoller, J.K.3
  • 78
    • 0035096397 scopus 로고    scopus 로고
    • The direct medical costs of alpha(1)-antitrypsin deficiency
    • Mullins CD, Huang X, Merchant S, Stoller JK. The direct medical costs of alpha(1)-antitrypsin deficiency. Chest 2001; 119:745-752.
    • (2001) Chest , vol.119 , pp. 745-752
    • Mullins, C.D.1    Huang, X.2    Merchant, S.3    Stoller, J.K.4
  • 79
    • 0025890293 scopus 로고
    • Cost-effectiveness of alpha-1 antitrypsin replacement therapy in treatment of congenital chronic obstructive pulmonary disease
    • Hay JW, Robin ED. Cost-effectiveness of alpha-1 antitrypsin replacement therapy in treatment of congenital chronic obstructive pulmonary disease. Am J Public Health 1991; 81:427-433.
    • (1991) Am J Public Health , vol.81 , pp. 427-433
    • Hay, J.W.1    Robin, E.D.2
  • 80
    • 0034017941 scopus 로고    scopus 로고
    • Should health-care systems pay for replacement therapy in patients with alpha(1)-antitrypsin deficiency? A critical review and cost-effectiveness analysis
    • Alkins SA, O'Malley P. Should health-care systems pay for replacement therapy in patients with alpha(1)-antitrypsin deficiency? A critical review and cost-effectiveness analysis. Chest 2000; 117:875-880.
    • (2000) Chest , vol.117 , pp. 875-880
    • Alkins, S.A.1    O'Malley, P.2
  • 81
    • 0037952677 scopus 로고    scopus 로고
    • Cost-effectiveness analysis of augmentation therapy for severe alpha1-antitrypsin deficiency
    • Gildea TR, Shermock KM, Singer ME, Stoller JK. Cost-effectiveness analysis of augmentation therapy for severe alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 2003; 167:1387-1392.
    • (2003) Am J Respir Crit Care Med , vol.167 , pp. 1387-1392
    • Gildea, T.R.1    Shermock, K.M.2    Singer, M.E.3    Stoller, J.K.4
  • 82
    • 0023197990 scopus 로고
    • Clonal gene therapy: Transplanted mouse fibroblast clones express human alpha 1-antitrypsin gene in vivo
    • Carver RI Jr, Chytil A, Courtney M, Crystal RG. Clonal gene therapy: transplanted mouse fibroblast clones express human alpha 1-antitrypsin gene in vivo. Science 1987; 237:762-764.
    • (1987) Science , vol.237 , pp. 762-764
    • Carver Jr., R.I.1    Chytil, A.2    Courtney, M.3    Crystal, R.G.4
  • 83
    • 0027748178 scopus 로고
    • Hepatic gene therapy: Efficient retroviral-mediated gene transfer into rat hepatocytes in vivo
    • Kolodka TM, Finegold M, Kay MA, Woo SL. Hepatic gene therapy: efficient retroviral-mediated gene transfer into rat hepatocytes in vivo. Somat Cell Mol Genet 1993; 19:491-497.
    • (1993) Somat Cell Mol Genet , vol.19 , pp. 491-497
    • Kolodka, T.M.1    Finegold, M.2    Kay, M.A.3    Woo, S.L.4
  • 84
    • 0024529042 scopus 로고
    • The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy
    • Crystal RG, Brantly ML, Hubbard RC, Curiel DT, States DJ, Holmes MD. The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy. Chest 1989; 95:196-208.
    • (1989) Chest , vol.95 , pp. 196-208
    • Crystal, R.G.1    Brantly, M.L.2    Hubbard, R.C.3    Curiel, D.T.4    States, D.J.5    Holmes, M.D.6
  • 86
    • 0742307402 scopus 로고    scopus 로고
    • Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults
    • Flotte TR, Brantly ML, Spencer LT, Byrne BJ, Spencer CT, Baker DJ, Humphries M. Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults. Hum Gene Ther 2004; 15:93-128.
    • (2004) Hum Gene Ther , vol.15 , pp. 93-128
    • Flotte, T.R.1    Brantly, M.L.2    Spencer, L.T.3    Byrne, B.J.4    Spencer, C.T.5    Baker, D.J.6    Humphries, M.7
  • 87
    • 0033808249 scopus 로고    scopus 로고
    • The effect of hyaluronan on elastic fiber injury in vitro and elastase-induced airspace enlargement in vivo
    • Cantor JO, Shteyngart B, Cerreta JM, Liu M, Armand G, Turino GM. The effect of hyaluronan on elastic fiber injury in vitro and elastase-induced airspace enlargement in vivo. Proc Soc Exp Biol Med 2000; 225:65-71.
    • (2000) Proc Soc Exp Biol Med , vol.225 , pp. 65-71
    • Cantor, J.O.1    Shteyngart, B.2    Cerreta, J.M.3    Liu, M.4    Armand, G.5    Turino, G.M.6
  • 88
    • 0034074088 scopus 로고    scopus 로고
    • Retinoic acid treatment partially rescues failed septation in rats and in mice
    • Massaro GD, Massaro D. Retinoic acid treatment partially rescues failed septation in rats and in mice. Am J Physiol Lung Cell Mol Physiol 2000; 278:L955-L960.
    • (2000) Am J Physiol Lung Cell Mol Physiol , vol.278
    • Massaro, G.D.1    Massaro, D.2
  • 89
    • 16944366965 scopus 로고    scopus 로고
    • Retinoic acid treatment abrogates elastase-induced pulmonary emphysema in rats
    • Massaro GD, Massaro D. Retinoic acid treatment abrogates elastase-induced pulmonary emphysema in rats. Nat Med 1997; 3:675-677.
    • (1997) Nat Med , vol.3 , pp. 675-677
    • Massaro, G.D.1    Massaro, D.2
  • 90
    • 0034652248 scopus 로고    scopus 로고
    • 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
    • Burrows JA, Willis LK, Perlmutter DH. 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.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 1796-1801
    • Burrows, J.A.1    Willis, L.K.2    Perlmutter, D.H.3
  • 92
    • 1542713396 scopus 로고    scopus 로고
    • Alpha1-antitrypsin deficiency. 2: Genetic aspects of alpha(1)-antitrypsin deficiency: Phenotypes and genetic modifiers of emphysema risk
    • DeMeo DL, Silverman EK. Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 2004; 59:259-264.
    • (2004) Thorax , vol.59 , pp. 259-264
    • Demeo, D.L.1    Silverman, E.K.2
  • 94
    • 0024467067 scopus 로고
    • Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency
    • American Thoracic Society
    • Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency. American Thoracic Society. Am Rev Respir Dis 1989; 140:1494-1497.
    • (1989) Am Rev Respir Dis , vol.140 , pp. 1494-1497
  • 95
    • 4043052858 scopus 로고    scopus 로고
    • Alpha1-Antitrypsin deficiency. 5: Intravenous augmentation therapy: Current understanding
    • Stoller JK, Aboussouan LS. alpha1-Antitrypsin deficiency. 5: intravenous augmentation therapy: current understanding. Thorax 2004; 59:708-712.
    • (2004) Thorax , vol.59 , pp. 708-712
    • Stoller, J.K.1    Aboussouan, L.S.2
  • 96
    • 0033739182 scopus 로고    scopus 로고
    • Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: A new hypothesis with supporting data
    • Lieberman J. Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting data. Chest 2000; 118:1480-1485.
    • (2000) Chest , vol.118 , pp. 1480-1485
    • Lieberman, J.1
  • 97
    • 0036606880 scopus 로고    scopus 로고
    • The effect of augmentation therapy on bronchial inflammation in alpha1-antitrypsin deficiency
    • Stockley RA, Bayley DL, Unsal I, Dowson LJ. The effect of augmentation therapy on bronchial inflammation in alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 2002; 165:1494-1498.
    • (2002) Am J Respir Crit Care Med , vol.165 , pp. 1494-1498
    • Stockley, R.A.1    Bayley, D.L.2    Unsal, I.3    Dowson, L.J.4


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