Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease: Figure 1:

Brode, Sarah K.; Ling, Simon C.; Chapman, Kenneth R.

doi:10.1503/cmaj.111749

Cited by 79 publications

(58 citation statements)

References 52 publications

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“…[67] Host factors, such as a rare hereditary deficiency of alpha1-antitrypsin, and environmental factors such as tobacco smoke, indoor/outdoor air pollution and heavy exposure to occupational dusts and chemicals contribute to COPD pathogenesis. [89] It has been recognized that patients with COPD usually suffer from concurrent comorbidities, such as diabetes, lung cancer, cardiovascular and cerebrovascular diseases. [10] Numerous studies have indicated that COPD can be prevented by cessation of smoking and improving indoor and outdoor air quality.…”

Section: Introductionmentioning

confidence: 99%

Relationships of MMP-9 and TIMP-1 proteins with chronic obstructive pulmonary disease risk: A systematic review and meta-analysis

et al. 2016

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Background:We performed this meta-analysis in order to collect all the relevant studies to clarify the correlations of matrix metalloproteinase-9 (MMP-9) and tissue inhibitor of metalloproteinase-1 (TIMP-1) with chronic obstructive pulmonary disease (COPD).Materials and Methods:After a literature search in electronic databases, pertinent case-control studies investigating the correlations of MMP-9 and TIMP-1 protein expressions within a COPD setting were enrolled based on our strict inclusion and exclusion criteria. We used key words such as “chronic obstructive pulmonary disease,” “COPD” or “COAD” or “chronic obstructive airway disease” and “matrix metalloproteinases” or “MMPs” to make a searching strategy in this study. STATA software (version 12.0, Stata Corporation, College Station, TX, USA) was utilized for statistical analysis.Results:A total of 20 studies were enrolled into this meta-analysis including 923 COPD patients and 641 healthy controls. The findings of this meta-analysis revealed that serum expression levels of MMP-9 and TIMP-1 protein in COPD patients were higher than those of healthy controls (MMP-9: SMD = 1.44, 95%CI = 0.85 ~ 2.04, P < 0.001; TIMP-1: SMD = 3.53, 95% CI = 2.31 ~ 4.75, P < 0.001). Subgroup analysis based on ethnicity revealed that both Caucasians and Asian COPD patients exhibited higher MMP-9 and TIMP-1 serum protein levels than healthy controls (MMP-9: SMD = 0.81, 95%CI = 0.15~1.48, P = 0.016; TIMP-1: SMD = 4.43, 95%CI = 1.98 ~ 6.87, P = 0.016) and in Caucasians (MMP-9: SMD = 2.30, 95%CI = 1.21 ~ 3.38, P < 0.001; TIMP-1: SMD = 2.86, 95%CI = 1.47 ~ 4.24, P < 0.001).Conclusion:The result of this meta-analysis indicates that elevated levels of MMP-9 and TIMP-1 proteins may be correlated with the pathogenesis of COPD, and the two proteins may represent important biological markers for the early diagnosis of COPD.

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Section: Introductionmentioning

confidence: 99%

Relationships of MMP-9 and TIMP-1 proteins with chronic obstructive pulmonary disease risk: A systematic review and meta-analysis

et al. 2016

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“…As shown in Table , AAT concentrations vary according to genotype, with normal levels in the range of 20‐53 μmol/L . Individuals with the PI*MM genotype have 105%‐164% of normal levels, PI*MS 88%‐137%, PI*SS 73%‐106%, PI*MZ 66‐100%, PI*SZ 49%‐66%, while <15%‐20% would suggest that an individual has the homozygous PI*ZZ, Z null, or null‐null genotype …”

Section: Genetics Serum Aat Levels and Epidemiologymentioning

confidence: 99%

Advances in managing COPD related to α₁‐antitrypsin deficiency: An under‐recognized genetic disorder

Craig

Henao

2018

Allergy

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Abstractα1‐Antitrypsin deficiency (AATD) predisposes individuals to chronic obstructive pulmonary disease (COPD) and liver disease. Despite being commonly described as rare, AATD is under‐recognized, with less than 10% of cases identified. The following is a comprehensive review of AATD, primarily for physicians who treat COPD or asthma, covering the genetics, epidemiology, clinical presentation, screening and diagnosis, and treatments of AATD. For patients presenting with liver and/or lung disease, screening and diagnostic tests are the only methods to determine whether the disease is related to AATD. Screening guidelines have been established by organizations such as the World Health Organization, European Respiratory Society, and American Thoracic Society. High‐risk groups, including individuals with COPD, nonresponsive asthma, bronchiectasis of unknown etiology, or unexplained liver disease, should be tested for AATD. Current treatment options include augmentation therapy with purified AAT for patients with deficient AAT levels and significant lung disease. Recent trial data suggest that lung tissue is preserved by augmentation therapy, and different dosing schedules are currently being investigated. Effective management of AATD and related diseases also includes aggressive avoidance of smoking and biomass burning, vaccinations, antibiotics, exercise, good diet, COPD medications, and serial assessment.

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“…[1] It is estimated that 1 person in 3,000-5,000 has A1AT deficiency. [5] It is a condition that is markedly under-diagnosed which probably relates to the fact that even some people with very low levels of the protein may not exhibit problems. Furthermore, manifestation of the disease is a mixture of genetic predisposition and environmental factors.…”

Section: Geneticsmentioning

confidence: 99%