Alpha-1-antitrypsin deficiency

Best Practice and Research: Clinical Gastroenterology

Volumn 24, Issue 5, 2010, Pages 629-633

  Bals, Robert ^a  

^a SAARLAND UNIVERSITY   (Germany)

Author keywords

Alpha 1 antitrypsin; Antiprotease; Chronic obstructive pulmonary disease (COPD); Liver disease; Protease

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ALGORITHM; ALPHA 1 ANTITRYPSIN DEFICIENCY; CHRONIC OBSTRUCTIVE LUNG DISEASE; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENOTYPE; HEPATITIS; HUMAN; ISOELECTRIC FOCUSING; LABORATORY DIAGNOSIS; LIVER BIOPSY; LIVER CELL; LIVER CIRRHOSIS; LIVER DISEASE; LUNG DISEASE; PHENOTYPE; PROTEIN BLOOD LEVEL; REVIEW; SCREENING TEST;

EID: 77958085556     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2010.08.006     Document Type: Article

References (21)

1. R. Mahadeva, and D.A. Lomas Genetics and respiratory disease. 2. Alpha 1-antitrypsin deficiency, cirrhosis and emphysema Thorax 53 6 1998 Jun 501 505
2. I. Blanco, F.J. de Serres, E. Fernandez-Bustillo, B. Lara, and M. Miravitlles Estimated numbers and prevalence of PIS and PIZ alleles of alpha1-antitrypsin deficiency in European countries ERJ 27 1 2006 Jan 77 84
3. Anonymous 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 168 7 2003 Oct 1 818 900
4. D.A. Lomas, and H. Parfrey Alpha1-antitrypsin deficiency. 4: molecular pathophysiology Thorax 59 6 2004 Jun 529 535
5. R.W. Carrell, and D.A. Lomas Alpha1-antitrypsin deficiency-a model for conformational diseases N Engl J Med 346 1 2002 Jan 3 45 53
6. K.D. Fairbanks, and A.S. Tavill Liver disease in alpha 1-antitrypsin deficiency: a review Am J Gastroenterol 103 8 2008 Aug 2136 2141
7. T. Kamimoto, S. Shoji, T. Hidvegi, N. Mizushima, K. Umebayashi, and D.H. Perlmutter Intracellular inclusions containing mutant alpha 1-antitrypsin Z are propagated in the absence of autophagic activity J Biol Chem 2005 Dec %19
8. T. Hidvegi, B.Z. Schmidt, P. Hale, and D.H. Perlmutter Accumulation of mutant alpha1-antitrypsin Z in the endoplasmic reticulum activates caspases-4 and -12, NFkappaB, and BAP31 but not the unfolded protein response J Biol Chem 280 47 2005 Nov 25 39002 39015
9. J.H. Teckman, J. Burrows, T. Hidvegi, B. Schmidt, P.D. Hale, and D.H. Perlmutter The proteasome participates in degradation of mutant alpha 1-antitrypsin Z in the endoplasmic reticulum of hepatoma-derived hepatocytes J Biol Chem 276 48 2001 Nov 30 44865 44872
10. N.G. McElvaney, J.K. Stoller, A.S. Buist, U.B. Prakash, M.L. Brantly, and M.D. Schluchter 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 111 2 1997 Feb 394 403
11. R. Bals, R. Koczulla, V. Kotke, J. Andress, K. Blackert, and C. Vogelmeier Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program Respir Med 101 2007 Apr 9 1217 1218
12. D.L. DeMeo, and E.K. Silverman Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk Thorax 59 3 2004 Mar 259 264
13. I. Ferrarotti, R. Scabini, I. Campo, S. Ottaviani, M. Zorzetto, and M. Gorrini Laboratory diagnosis of alpha1-antitrypsin deficiency Transl Res 150 5 2007 Nov 267 274
14. M.R. Snyder, J.A. Katzmann, M.L. Butz, C. Wiley, P. Yang, and D.B. Dawson Diagnosis of alpha-1-antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping Clin Chem 52 12 2006 Dec 2236 2242
15. S.J. Steiner, S.K. Gupta, J.M. Croffie, and J.F. Fitzgerald Serum levels of alpha1-antitrypsin predict phenotypic expression of the alpha1-antitrypsin gene Dig Dis Sci 48 9 2003 Sep 1793 1796
16. J.H. Teckman, and D. Lindblad Alpha-1-antitrypsin deficiency: diagnosis, pathophysiology, and management Curr Gastroenterol Rep 8 1 2006 Feb 14 20
17. D.H. Perlmutter Liver injury in alpha1-antitrypsin deficiency: an aggregated protein induces mitochondrial injury J Clin Invest 110 11 2002 Dec 1579 1583
18. T. Sveger Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants N Engl J Med 294 24 1976 Jun 10 1316 1321
19. S.J. von, N. Breuer, R. Zotz, H. Liedmann, M. Wencker, and M. Beste Liver function in patients with pulmonary emphysema due to severe alpha-1-antitrypsin deficiency (Pi ZZ) Digestion 57 3 1996 165 169
20. M. Needham, and R.A. Stockley alpha(1)-Antitrypsin deficiency 3: clinical manifestations and natural history Thorax 59 5 2004 May 441 445
21. J.K. Stoller, and L.S. Aboussouan alpha1-Antitrypsin deficiency. 5: intravenous augmentation therapy: current understanding Thorax 59 8 2004 Aug 708 712