Alpha1-Antitrypsin Deficiency

被引：282
作者：
Strnad, Pavel [1 ]
McElvaney, Noel G. [2 ]
Lomas, David A. [3 ]
机构：
[1] Univ Hosp RWTH Rheinisch Westfalisch Tech Hsch Aa, Dept Internal Med 3, Aachen, Germany
[2] Royal Coll Surgeons Ireland, Beaumont Hosp, Irish Ctr Genet Lung Dis, Dublin, Ireland
[3] UCL, Rayne Inst, Div Med, UCL Resp, London, England
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2020年 / 382卷 / 15期
关键词：
OBSTRUCTIVE PULMONARY-DISEASE; SEVERE ALPHA-1-ANTITRYPSIN DEFICIENCY; LIVER-DISEASE; ENDOPLASMIC-RETICULUM; ALPHA1-ANTITRYPSIN DEFICIENCY; NEUTROPHIL ELASTASE; LUNG-FUNCTION; POLYMERIZATION; POLYMERS; EMPHYSEMA;
D O I：
10.1056/NEJMra1910234
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
AAT is a protease inhibitor targeting neutrophil elastase. It prevents the destruction of tissue, particularly in the lung, from elastase activity. AAT deficiency is a genetic disorder characterized by pulmonary disease, especially emphysema and bronchiectasis, and hepatic disease.
引用
收藏
页码：1443 / 1455
页数：13
相关论文
共 75 条
  • [1] A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
    Abul-Husn, N. S.
    Cheng, X.
    Li, A. H.
    Xin, Y.
    Schurmann, C.
    Stevis, P.
    Liu, Y.
    Kozlitina, J.
    Stender, S.
    Wood, G. C.
    Stepanchick, A. N.
    Still, M. D.
    McCarthy, S.
    O'Dushlaine, C.
    Packer, J. S.
    Balasubramanian, S.
    Gosalia, N.
    Esopi, D.
    Kim, S. Y.
    Mukherjee, S.
    Lopez, A. E.
    Fuller, E. D.
    Penn, J.
    Chu, X.
    Luo, J. Z.
    Mirshahi, U. L.
    Carey, D. J.
    Still, C. D.
    Feldman, M. D.
    Small, A.
    Damrauer, S. M.
    Rader, D. J.
    Zambrowicz, B.
    Olson, W.
    Murphy, A. J.
    Borecki, I. B.
    Shuldiner, A. R.
    Reid, J. G.
    Overton, J. D.
    Yancopoulos, G. D.
    Hobbs, H. H.
    Cohen, J. C.
    Gottesman, O.
    Teslovich, T. M.
    Baras, A.
    Mirshahi, T.
    Gromada, J.
    Dewey, F. E.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (12) : 1096 - 1106
  • [2] Oxidation of Z α1-Antitrypsin by Cigarette Smoke Induces Polymerization A Novel Mechanism of Early-Onset Emphysema
    Alam, Sam
    Li, Zhenjun
    Janciauskiene, Sabina
    Mahadeva, Ravi
    [J]. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2011, 45 (02) : 261 - 269
  • [3] American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2003, 168 (07) : 818 - 855
  • [4] [Anonymous], 2018, J ULTRAS MED, V37, pE13
  • [5] An analysis of the degree of concordance among international guidelines regarding alpha-1 antitrypsin deficiency
    Attaway, Amy
    Majumdar, Uddalak
    Sandhaus, Robert A.
    Nowacki, Amy S.
    Stoller, James K.
    [J]. INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE, 2019, 14 : 2089 - 2101
  • [6] Bone Marrow Stem Cell Therapy Partially Ameliorates Pathological Consequences in Livers of Mice Expressing Mutant Human a1-Antitrypsin
    Baligar, Prakash
    Kochat, Veena
    Arindkar, Shailendra K.
    Equbal, Zaffar
    Mukherjee, Snehashish
    Patel, Swati
    Nagarajan, Perumal
    Mohanty, Sujata
    Teckman, Jeffrey H.
    Mukhopadhyay, Asok
    [J]. HEPATOLOGY, 2017, 65 (04) : 1319 - 1335
  • [7] Genetic Modifiers of Liver Disease in Cystic Fibrosis
    Bartlett, Jaclyn R.
    Friedman, Kenneth J.
    Ling, Simon C.
    Pace, Rhonda G.
    Bell, Scott C.
    Bourke, Billy
    Castaldo, Giuseppe
    Castellani, Carlo
    Cipolli, Marco
    Colombo, Carla
    Colombo, John L.
    Debray, Dominique
    Fernandez, Adriana
    Lacaille, Florence
    Macek, Milan, Jr.
    Rowland, Marion
    Salvatore, Francesco
    Taylor, Christopher J.
    Wainwright, Claire
    Wilschanski, Michael
    Zemkova, Dana
    Hannah, William B.
    Phillips, M. James
    Corey, Mary
    Zielenski, Julian
    Dorfman, Ruslan
    Wang, Yunfei
    Zou, Fei
    Silverman, Lawrence M.
    Drumm, Mitchell L.
    Wright, Fred A.
    Lange, Ethan M.
    Durie, Peter R.
    Knowles, Michael R.
    Clancy, J. P.
    Sindel, L. J.
    Roberts, D. M.
    Roberts, V.
    Radford, P. J.
    Argel, N.
    Morgan, W. J.
    Douthit, J. L.
    Schellhase, D. E.
    Anderson, P.
    Taggart, A.
    Morrissey, B.
    Platzker, A. C. G.
    Woo, M. S.
    Fukushima, L.
    Hsu, E.
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2009, 302 (10): : 1076 - 1083
  • [8] Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update
    Blanco, Ignacio
    Bueno, Patricia
    Diego, Isidro
    Perez-Holanda, Sergio
    Casas-Maldonado, Francisco
    Esquinas, Cristina
    Miravitlles, Marc
    [J]. INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE, 2017, 12 : 561 - 569
  • [9] Histone Deacetylase Inhibitor (HDACi) Suberoylanilide Hydroxamic Acid (SAHA)-mediated Correction of α1-Antitrypsin Deficiency
    Bouchecareilh, Marion
    Hutt, Darren M.
    Szajner, Patricia
    Flotte, Terence R.
    Balch, William E.
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2012, 287 (45) : 38265 - 38278
  • [10] Long-term safety of α-1 antitrypsin therapy in children and adolescents with Type 1 diabetes
    Brener, Avivit
    Lebenthal, Yael
    Interator, Hagar
    Horesh, Orit
    Leshem, Avital
    Weintrob, Naomi
    Loewenthal, Neta
    Shalitin, Shlomit
    Rachmiel, Marianna
    [J]. IMMUNOTHERAPY, 2018, 10 (13) : 1137 - 1148
12345678