Neonatal screening for alpha1-antitrypsin deficiency

O'Brien, Mary Lynn; Buist, Neil R. M.; Murphey, William H.

doi:10.1016/s0022-3476(78)80388-6

Cited by 124 publications

(56 citation statements)

References 12 publications

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“…As reviewed previously, 3 many such strategies have been undertaken to date, including attempts to raise awareness of alpha-1 antitrypsin deficiency among primary care physicians and RTs using various instructional methods (eg, continuing 18 issuing prompts within the electronic medical record for alpha-1 antitrypsin testing of patients with fixed air-flow obstruction, 19,20 and reconsidering screening of newborns for alpha-1 antitrypsin deficiency. 21,22 The prevalence of PI*ZZ individuals detected in 9 prior targeted detection reports has been variable (range 0 -12%), with 6 of the 9 studies reporting rates of PI*ZZ detected individuals less than the 3.2% rate detected by trained RTs in the present study. One of the earlier 9 studies 23 reported an identical rate of 3.2%.…”

Section: Discussionmentioning

confidence: 51%

Detection of Alpha-1 Antitrypsin Deficiency by Respiratory Therapists: Experience With an Educational Program

et al. 2013

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, and 326 patients reported that they were referred for testing by an RT. Thirty-four percent (111/326) of these referrals were by trained RTs (6.2/mo). Sixty-two test blood kits were returned by these 111 referred patients and analyzed (4/mo). Two of these specimens (3.2%) were from patients identified as having severe alpha-1 antitrypsin deficiency (PI*ZZ) and one from a patient with PI*SZ (serum level 14 M). Twenty-four percent were from PI*MZ heterozygotes. CONCLUSIONS: A program to educate RTs about alpha-1 antitrypsin deficiency was associated with referral of patients for alpha-1 antitrypsin deficiency testing and high rates of detecting individuals with severe alpha-1 antitrypsin deficiency.

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Section: Discussionmentioning

confidence: 51%

Detection of Alpha-1 Antitrypsin Deficiency by Respiratory Therapists: Experience With an Educational Program

et al. 2013

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“…The results demonstrated 1 in 1575 live births were homozygous for the Z mutation (PI*ZZ). A similar study undertaken in Oregon, USA screened 107,038 newborns and found the prevalence of the ZZ phenotype in that population to be 1 in 5097 (O'Brien et al, 1978). Among 20,000 healthy blood donors tested in St. Louis, Missouri in the United States, 1 in 2857 were homozygous for the Z mutation.…”

Section: Epidemiologymentioning

confidence: 93%

Alpha One Antitrypsin Deficiency: A Pulmonary Genetic Disorder

Sjoding¹,

Hogarth²

2011

Advances in the Study of Genetic Disorders

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“…[38,39]. Although there is a clear association of homozygosity for this gene variant and the development of COPD, the homozygous state is rare in the population (1 in 1,670 [40] to 1 in 5,097 [41] live births in Caucasian populations) and, thus, can explain only a small percentage of the genetic susceptibility to cigarette smoke. The discovery that homozygosity for the Z variant leads to increased risk for COPD led to numerous studies in which an association of COPD and heterozygous genotypes was sought.…”

Section: Alpha 1 -Antitrypsinmentioning

confidence: 99%

Genetic risk factors for chronic obstructive pulmonary disease

Sandford¹,

Weir²,

Paré³

1997

Eur Respir J

192

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Cigarette smoking is the major risk factor for chronic obstructive pulmonary disease (COPD). However, only a minority of cigarette smokers develop symptomatic disease. Studies of families and twins suggest that genetic factors also contribute to the development of COPD. We present a detailed literature review of the genes which have been investigated as potential risk factors for this disease.The only established genetic risk factor for COPD is homozygosity for the Z allele of the α 1 -antitrypsin gene. Heterozygotes for the Z allele may also be at increased risk. Other mutations affecting the structure of α 1 -antitrypsin or the regulation of gene expression have been identified as risk factors.Genes, including those for α 1 -antichymotrypsin, α 2 -macroglobulin, vitamin Dbinding protein and blood group antigens, have also been associated with the development of COPD. Variants of the cystic fibrosis transmembrane regulator gene have been identified as risk factors for disseminated bronchiectasis.The genetic basis to chronic obstructive pulmonary disease has begun to be elucidated and it is likely that several genes will be implicated in the pathogenesis of this disease. The knowledge gained from such studies may also prove relevant to other inflammatory diseases. Eur Respir J 1997; 10: 1380-1391. REVIEWChronic obstructive pulmonary disease (COPD) is characterized by decreased expiratory flow rates, increased pulmonary resistance and hyperinflation. The most important risk factor for the development of COPD is cigarette smoking [1]. Cigarette smoke, in combination with other factors, leads to two pathophysiological processes in the lung. The first is proteolytic destruction of the lung parenchyma, which increases the size of the airspaces; these eventually coalesce to form emphysematous spaces. The development of emphysema is associated with a loss of lung elastic recoil. The second process is inflammatory narrowing of peripheral airways, which is characterized by oedema, mucus hypersecretion and fibrosis, scarring, distortion and obliteration of peripheral airways. The loss of lung elastic recoil and the narrowing of the peripheral airways combine to decrease maximal expiratory flow from the lung and contribute to hyperinflation. In conjunction with gas exchange abnormalities, hyperinflation produces the symptoms of COPD.Despite the clear association of smoking and airway obstruction, there remains marked interindividual variation in the response to cigarette smoke. This indicates that there are additional genetic or environmental cofactors, which contribute to the development of COPD. It has been estimated that only 10-20% of chronic heavy smokers will ever develop symptomatic COPD [2,3]. Co-factors, such as childhood viral respiratory infections and environmental and occupational pollution, undoubtedly play a role in determining this susceptible subset. Furthermore, there is evidence that genetic susceptibility is of major importance. The epidemiological and clinical data that demonstrate a heredit...

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Neonatal screening for alpha1-antitrypsin deficiency

Cited by 124 publications

References 12 publications

Detection of Alpha-1 Antitrypsin Deficiency by Respiratory Therapists: Experience With an Educational Program

Detection of Alpha-1 Antitrypsin Deficiency by Respiratory Therapists: Experience With an Educational Program

Alpha One Antitrypsin Deficiency: A Pulmonary Genetic Disorder

Genetic risk factors for chronic obstructive pulmonary disease

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