ArticleOrphanet journal of rare diseases2009
Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.
Article in Orphanet journal of rare diseases, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Characterization of the Mmalton carrier's cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry.BMC pulmonary medicine · 2025Article
- Testing Alpha-1 Antitrypsin Deficiency in Black Populations.Advances in respiratory medicine · 2023Review
- Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.Human genomics · 2023Article
- An Alpha-1 Antitrypsin Deficiency Screening Study in Patients with Chronic Obstructive Pulmonary Disease, Bronchiectasis, or Asthma in Turkey.International journal of chronic obstructive pulmonary disease · 2023Article
- Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.Respiratory medicine case reports · 2018Article
- Genotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis.Medicine · 2017Observational
- Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD.Multidisciplinary respiratory medicine · 2017Article
- Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.International journal of chronic obstructive pulmonary disease · 2016Article
- Alpha-1 antitrypsin deficiency in Iranian patients with chronic obstructive pulmonary disease.Iranian Red Crescent medical journal · 2013Article
- Article
- In silico analysis of alpha1-antitrypsin variants: The effects of a novel mutation.Genetics and molecular biology · 2010Article
- Rapid genotyping of alpha 1 antitrypsin deletion mutation (PI*Mmalton) using bi-directional PCR allele-specific amplification.Molecular biotechnology · 2010Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAATD 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.
methodsOne 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.
resultsWe found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg.
conclusionthis 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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