Screening and familial testing of patients for α1- antitrypsin deficiency

Chest

Volumn 133, Issue 4, 2008, Pages 981-988

  Hogarth, D Kyle ^a   Rachelefsky, Gary ^b  

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Evidence based medicine; Genetic screening; Phenotype; 1 antitrypsin deficiency

Indexed keywords

AIRWAY OBSTRUCTION; ALPHA 1 ANTITRYPSIN DEFICIENCY; ASTHMA; CHRONIC OBSTRUCTIVE LUNG DISEASE; EARLY DIAGNOSIS; ENVIRONMENTAL EXPOSURE; EUROPE; FAMILIAL DISEASE; HUMAN; LUNG EMPHYSEMA; LUNG FUNCTION TEST; MASS SCREENING; MEDICAL ETHICS; MEDICAL SOCIETY; POLLUTANT; POPULATION RESEARCH; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; REVIEW; SCREENING TEST; SMOKING; SOCIAL ASPECT; UNITED STATES;

EID: 42149188192     PISSN: 00123692     EISSN: None     Source Type: Journal    
DOI: 10.1378/chest.07-1001     Document Type: Article

References (44)

1. 1-Antitrypsin deficiency: diagnosis and treatment. Clin Liver Dis 2004; 8:839-859
2. 1-Antitrypsin deficiency: 3. Clinical manifestations and natural history. Thorax 2004; 59:441-445
3. 1-Antitrypsin deficiency. Thorax 2004; 59:92-93
4. 1-antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168:818-900
5. 1-antitrypsin deficiency. Thorax 2004; 59:164-169
6. 1- antitrypsin deficiency in European countries. Eur Respir J 2006; 27:77-84
7. 1-antitrypsin deficiency among COPD patients: evidence supporting targeted screening. COPD 2006; 3:133-139
8. 1-antitrypsin deficiency between 1968 and 2003. Chest 2005; 128:1179-1186
9. 1-Antitrypsin deficiency: current perspective on research, diagnosis, and management. Int J COPD 2006; 1:151-160
10. 1-antitrypsin deficiency by a targeted screening program. Respir Med 2007; 101:1708-1714
11. 1-Antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ 1997; 75:397-415
12. 1-Antitrypsin deficiency. Lancet 2005; 365:2225-2236
13. 1-antitrypsin deficiency, cirrhosis and emphysema. Thorax 1998; 53:501-505
14. 1- antitrypsin deficiency. Miami, FL: Alpha-1 Foundation, 2006
15. 1-antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. Clin Genet 2003; 64:382-397
16. 1-antitrypsin deficiency (PiZZ). Eur Respir J 1999; 13:247-251
17. Piitulainen E, Tornling G, Eriksson S. Effect of age and occupational exposure to airway irritants on lung function in non-smoking individuals with α1-antitrypsin deficiency (PiZZ). Thorax 1997; 52:244-248
18. 1-antitrypsin deficiency. Am J Respir Crit Care Med 2006; 173:1072-1077
19. Piitulainen E, Bernspang E, Sveger T. Respiratory symptoms and lung function in 30-year-old PiZ and PiSZ individuals: follow up of the Swedish Neonatal Screening Cohort; new insights into the biology of AAT. Presented at: the Alpha-1 Foundation 6th International Scientific Conference; Coral Gables, FL; February 8-10
20. 1-antitrypsin deficiency. Arch Pediatr Adolesc Med 2006; 160:531-534
21. 1-antitrypsin testing: specialty center support for rare diseases. Presented at: the American Thoracic Society Annual Meeting; May 18-23, 2007; San Francisco, CA; poster A988
22. 1-antitrypsin deficiency. Am J Med 1983; 74:221-227
23. 1-antitrypsin deficiency (PiZZ). Thorax 2002; 57:705-708
24. 1- Antitrypsin deficiency in 26-year-old subjects: lung, liver, and protease/protease inhibitor studies. Chest 2005; 128:2076-2081
25. 1-Antitrypsin phenotypes in African Americans. Presented at the American Thoracic Society Annual Meeting; May 18-23, 2007; San Francisco, CA; Poster A988
26. 1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 1988; 138:327-336
27. 1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry. Chest 2005; 127:1196-1204
28. Buist AS, Burrows B, Eriksson S, et al. The natural history of air-flow obstruction in PiZ emphysema: report of an NHLBI workshop. Am Rev Respir Dis 1983; 127:S43-S45
29. 1-protease inhibitor deficiency. Am J Med 1988; 84:3-12
30. 1-antitrypsin deficiency: Alpha-1-Antitrypsin Deficiency Registry Study Group. Chest 1997; 111:394-403
31. 1-antitrypsin deficiency type PiZ. Am J Respir Crit Care Med 1995; 152:1922-1925
32. Tager IB, Segal MR, Speizer FE, et al. The natural history of forced expiratory volumes: effect of cigarette smoking and respiratory symptoms. Am Rev Respir Dis 1988; 138:837-849
33. 1-antitrypsin deficiency. Ann Behav Med 2007; 33:22-28
34. 1-antitrypsin deficiency: Alpha-1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med 1996; 154:1718-1725
35. 1-Antitrypsin deficiency in Ireland: national targeted detection program. Presented at: The ATS Annual Meeting; May 18-23, 2007; San Francisco, CA; poster A988
36. Stoller JK, Sandhaus RA, Turino G, et al. Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest 2005; 128:1989-1994
37. 1-antitrypsin deficiency: results of a survey. Cleve Clin J Med 1994; 61:461-467
38. 1- antitrypsin deficiency. Respir Care 2003; 48:1216-1221
39. 1-antitrypsin deficiency. Chest 2001; 119:745-752
40. 1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med 1976; 294:1316-1321
41. 1-antitrypsin deficiency. J Pediatr 1990; 116:248-251
42. 1-antitrypsin deficiency (ATD). Acta Paediatr 1996; 85:1207-1212
43. Sveger T, Thelin T. A future for neonatal alpha1-antitrypsin screening? Acta Paediatr 2000; 89:628-631
44. Strange C, Dickson R, Carter C, et al. Genetic testing for alpha1-antitrypsin deficiency. Genet Med 2004; 6:204-210