Abstract：
INTRODUCTION:Alpha-1 antitrypsin deficiency is a hereditary disease defined at the biological level by a serum alpha-1 antitrypsin level below 11μM/L. The null variants are characterized by undetectable circulating alpha-1 antitrypsin levels. Suspicion of a null variant requires the use of appropriate diagnostic techniques. CASE REPORT:We report the case of a 33-year old patient presenting with dyspnea on exertion, associated with a moderate airflow obstruction, incompletely reversible. His tobacco use was less than 3pack-years. The thoracic CT-scan showed emphysema. The serum alpha-1 antitrypsin level was collapsed. Phenotyping by isoelectrofocusing on agarose gels did not show any band. The study of the SERPINA1 gene, by PCR-sequence of the II, III, IV and V exons and the flanking intronic sequences, allowed identification of the NullQ0ourém allele in homozygous state. This mutation was found in heterozygous state in both parents of the index case and in one of his brothers. The index case showed a rapid aggravation of the airflow obstruction. CONCLUSION:In the case of a serum alpha-1 antitrypsin deficiency, the analysis of the phenotype of the protein by isoelectrofocusing must be performed as a first-line investigation. The detection of an atypical profile may suggest the presence of deficient alleles other than the PI S and PI Z alleles that can only be characterized by sequencing of the whole SERPINA1 gene. The patients carrying a null mutation have a high risk of severe chronic obstructive pulmonary disease.
journal_name
Rev Mal Respirjournal_title
Revue des maladies respiratoiresauthors
Perrin J,Aimone-Gastin I,Balduyck M,Mercy M,Filhine-Trésarrieu P,Odou MF,Chaouat A,Chabot Fdoi
10.1016/j.rmr.2015.10.007subject
Has Abstractpub_date
2016-09-01 00:00:00pages
612-7issue
7eissn
0761-8425issn
1776-2588pii
S0761-8425(15)00372-1journal_volume
33pub_type
杂志文章abstract：:The definition of asthma brings with it the idea of inflammation, as bronchial obstruction, which characterises it, is associated with bronchospasm, hypersecretion and oedema. In the asthmatic, awareness of the bronchial inflammation at the time of diagnosis is essential, as it contributes to prognosis and therapeutic...
journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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doi：
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journal_title：Revue des maladies respiratoires
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doi：10.1016/s0761-8425(09)73329-7
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doi：
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journal_title：Revue des maladies respiratoires
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