Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report

被引：19

作者：

Denden, Sabri ^{[2
]}

Zorzetto, Michele ^{[1
]}

Amri, Fethi ^{[3
]}

Knani, Jalel ^{[4
]}

Ottaviani, Stefania ^{[1
]}

Scabini, Roberta ^{[1
]}

Gorrini, Marina ^{[1
]}

Ferrarotti, Ilaria ^{[1
]}

Campo, Ilaria ^{[1
]}

Ben Chibani, Jemni ^{[2
]}

Khelil, Amel Haj ^{[2
]}

Luisetti, Maurizio ^{[1
]}

机构：

[1] IRCCS San Matteo Hosp Fdn, Inst Resp Dis, Ctr Diag Inherited Alpha1 Antirtypsin Deficiency, I-27100 Pavia, Italy

[2] Fac Pharm, Biochem & Mol Biol Lab, Monastir 5019, Tunisia

[3] Ibn El Jazzar Hosp, Dept Pediat, Kairouan 3100, Tunisia

[4] CHU Tahar Sfar, Dept Pulmonol, Mahdia 5111, Tunisia

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2009年 / 4卷

关键词：

ALPHA(1)-ANTITRYPSIN DEFICIENCY; VARIANTS; ALLELE; IDENTIFICATION; POPULATION; PREVALENCE; MUTATIONS; EMPHYSEMA;

D O I：

10.1186/1750-1172-4-12

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：5

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