Genetic Testing for Alpha-1 Antitrypsin Deficiency

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منابع مشابه

Prevalence of Alpha-1 Antitrypsin (A1AT) Deficiency among Patients with COPD in Kerman, Iran

Background: One of the genetic risk factors for chronic obstructive pulmonary disease (COPD) is deficiency of Alpha-1 Antitrypsin (A1AT). There is no exact statistics about the prevalence of this disease in different regions of Iran. The present study aimed to determine the prevalence of alpha-1 antitrypsin (A1AT) deficiency in COPD patients in Kerman, Iran. Metho...

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American Thoracic Society Documents American Thoracic Society/European Respiratory Society Statement: Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency

Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 820 Goals, Organization of the Project, and Timeline . . . . . 820 Summary of Main Recommendations Regarding Diagnosis and Management by the Alpha-1 Antitrypsin Deficiency Task Force . . . . . . . . . . . . . 820 Clinical Recognition of AAT Deficiency . . . . . . . . . . 820 Genetic Testing for AAT Deficiency . ....

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Detection of alpha-1 antitrypsin deficiency by respiratory therapists: experience with an educational program.

BACKGROUND Alpha-1 antitrypsin deficiency is under-recognized. We hypothesized that respiratory therapists (RTs) could help improve the detection rate of individuals with alpha-1 antitrypsin deficiency. The American Association for Respiratory Care (AARC) and Alpha-1 Foundation recently collaborated to create an online alpha-1 antitrypsin deficiency training program for RTs. This study aimed to...

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Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targeted screening.

Alpha-1 antitrypsin deficiency is known as a significant genetic risk factor for COPD for carriers of phenotype PIMZ, and for phenotypes PIZZ and PISZ. Genetic epidemiological studies for alpha-1 antitrypsin deficiency conducted by others on both COPD patients and concurrent non-COPD controls were used to estimate the risk factors for all six phenotypic classes (namely, the normal phenotype PIM...

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Routine genetic testing for alpha-1 antitrypsin deficiency

Mutations in the PI gene, located on chromosome 14, are associated with this genetic disorder. The most common deficiency alleles are PiS (1:9 1:12 carrier frequency among Caucasians) and the PiZ allele (1:30 1:40 carrier frequency among Caucasians). New data on the worldwide prevalence of AAT deficiency support the scientific community's impression that AAT deficiency is not a rare disease, bu...

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Sensitivity of alpha-1 antitrypsin level for inherited deficiency detection in COPD patients.

BACKGROUND AND OBJECTIVE Alpha-1 antitrypsin deficiency is an underdiagnosed condition in patients with chronic obstructive pulmonary disease. Diagnosis of this genetic condition is confirmed by genetic verification of pathology, but for screening purposes quantitative methods can be useful. The aim of our study was to evaluate sensitivity and specificity of quantitative methods for alpha-1 ant...

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تاریخ انتشار 2017