TY - JOUR
T1 - Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease
T2 - A feasibility report
AU - Denden, Sabri
AU - Zorzetto, Michele
AU - Amri, Fethi
AU - Knani, Jalel
AU - Ottaviani, Stefania
AU - Scabini, Roberta
AU - Gorrini, Marina
AU - Ferrarotti, Ilaria
AU - Campo, Ilaria
AU - Chibani, Jemni Ben
AU - Khelil, Amel Haj
AU - Luisetti, Maurizio
PY - 2009
Y1 - 2009
N2 - Background. AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number of small studies. We therefore planned a screening study for detection of AATD in patients with OLD in a cohort of patients from Kairouan in central Tunisia. Methods: One hundred twenty patients with OLD (asthma, emphysema, COPD) were enrolled in the screening programme. Laboratory diagnosis for AATD was performed according to current diagnostic standards. Results. We found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg. Conclusion. this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia.
AB - Background. AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number of small studies. We therefore planned a screening study for detection of AATD in patients with OLD in a cohort of patients from Kairouan in central Tunisia. Methods: One hundred twenty patients with OLD (asthma, emphysema, COPD) were enrolled in the screening programme. Laboratory diagnosis for AATD was performed according to current diagnostic standards. Results. We found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg. Conclusion. this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia.
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U2 - 10.1186/1750-1172-4-12
DO - 10.1186/1750-1172-4-12
M3 - Article
C2 - 19368725
AN - SCOPUS:65349107100
VL - 4
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
M1 - 12
ER -