The main objective of this trial is to evaluate the prevalence of alpha-1 antitrypsin quantitative and functional deficiency in an adult French population presenting with pulmonary emphysema. Phenotypic and genotypic studies will be carried whenever quantitative and/or functional deficiency will be displayed.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
190
Blood tests (Alpha-1 antitrypsin protein measurement, elastase-inhibitory capacity of plasma measurement, phenotypic and genotypic studies)
Hôpital Louis Pradel - service de pneumologie
Bron, France
Number of patient with alpha-1 antitrypsin dysfunction
Alpha-1 antitrypsin protein will be measured either on serum or plasma by standardized immunoassay. The elastase-inhibitory capacity of plasma will be evaluated by a functional test. The anti-elastase dysfunction of alpha-1 antitrypsin will be evaluated using both measurements.
Time frame: Samples for evaluation of alpha-1 antitrypsin dysfunction will be performed the day of the patient enrollment
Determination of alpha-1 antitrypsin protein phenotype
The determination of the alpha-1 antitrypsin protein phenotype may highlight genotype variants. The different known phenotypes are: Pi MM, Pi Z; Pi S, Pi SS, Pi SZ, Pi ZZ.
Time frame: Samples for phenotype analysis will be performed the day of the patient enrollment
Molecular genotyping of gene coding alpha-1 antitrypsin
For those patients who presented with either a functional or a quantitative dysfunction, we will look for genetic mutations in the gene coding the alpha-1 antitrypsin allowing the identification of specific genotype such as MM, MZ, MS, SS and SZ
Time frame: Samples for molecular genotyping will be performed the day of the patient enrollment
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