From: Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD
Phenotype Studies (n = number of patients) | Normal phenotype | Alpha-1-antitrypsin mutation Phenotypes | Inclusion criteria | |||||
---|---|---|---|---|---|---|---|---|
PiMM n % | PiMZ n % | PiMS n % | PiSS n % | PiSZ n % | PiZZ n % | Other phenotypes n % | ||
Mittman et al. 1974 [43] (n = 240) USA | 194 80,8% | 20 8,4% | 17 7,1% | 1 0,4% | 2 0,8% | 6 2,5% | 0 0% | Chronic bronchitis and/or emphysema |
Cox et al. 1976 [44] (n = 163) USA | 139 85,3% | 8 4,9% | 7 4,3% | 0 0% | 0 0% | 8 4,9% | 1 0,6% | COPD and aged over 18 years |
Liebermann et al. 1986 [45] (n = 965) USA | not indicated | 74 7,7% | 86 8,9% | 3 0,3% | 3 0,3% | 18 1,9% | not indicated | COPD |
Sitkauskiene et al. 2008 [46] (n = 1167) Lithuania | not indicated | 40 3,4% | 39 3,3% | 1 0,1% | 3 0,3% | 8 0,7% | 0 0% | COPD according to GOLD |
Sabri Denden et al. 2008 [47] (n = 120) Tunisia | 114 95% | 1 0.83% | 0 0% | 0 0% | 0 0% | 0 0% | 5 4,2% | COPD according to GOLD |
Molina et al. [36] 2009 (n = 596) Spain | 487 81,7% | 16 2,7% | 80 13,4% | 10 1,7% | 1 0,2% | 2 0,3% | 0 0% | COPD according to GOLD |
Novak T et al. 2011, [48] (n = 105) Germany | 94 89,5% | 4 3,8% | 6 5,7% | 0 0% | 0 0% | 1 1,0% | 0 0% | COPD according to GOLD |
Sydykova S. et al. 2008 [49] Kirgizstan (n = 125) | 139 97,2% | 3 2,1% | 0 0% | 0 0% | 0 0% | 1 0,7% | 0 0% | COPD according to GOLD |
Rahaghi et al. 2012 [50] (n = 3152) USA | 2780 88,2% | 124 3,9% | 225 7,1% | 9 0,28% | 10 0,32% | 10 0,32% | 0 0% | Case-finding in GOLD II-IV sent for Spirometry excluded previously tested patients |
This study (n = 187) Kazakhstan | 181 96.8 | 3 1,6% | 1 0,5% | 0 0% | 0 0% | 0 0% | 2 1,1% | COPD according to GOLD |