NDLI: Déficit en alpha-1 antitrypsine secondaire à une mutation Null.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Perrin, J. Aimone-Gastin, I. Balduyck, M. Mercy, M. Filhine-Trésarrieu, P. Odou, M-F Chaouat, A. Chabot, F.
Description	Author Affiliation: Perrin J ( Département de pneumologie, CHU de Nancy, 5, rue du Morvan, 54500 VandÅ uvre-lès-Nancy, France. Electronic address: j.perrin@chu-nancy.fr.); Aimone-Gastin I ( Laboratoire de biochimie-biologie moléculaire-nutrition-métabolisme, CHU de Nancy, 5, rue du Morvan, 54500 VandÅ uvre-lès-Nancy, France.); Balduyck M ( Laboratoire de biochimie et biologie moléculaire (HMNO), centre de biologie pathologie, CHRU de Lille, 2, avenue Oscar-Lambret, 59037 Lille cedex, France); Mercy M ( Département de pneumologie, CHU de Nancy, 5, rue du Morvan, 54500 VandÅ uvre-lès-Nancy, France.); Filhine-Trésarrieu P ( Laboratoire de biochimie-biologie moléculaire-nutrition-métabolisme, CHU de Nancy, 5, rue du Morvan, 54500 VandÅ uvre-lès-Nancy, France.); Odou MF ( Laboratoire de biochimie et biologie moléculaire (HMNO), centre de biologie pathologie, CHRU de Lille, 2, avenue Oscar-Lambret, 59037 Lille cedex, France); Chaouat A ( Département de pneumologie, CHU de Nancy, 5, rue du Morvan, 54500 VandÅ uvre-lès-Nancy, France); Chabot F ( Département de pneumologie, CHU de Nancy, 5, rue du Morvan, 54500 VandÅ uvre-lès-Nancy, France)
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.
File Format	HTM / HTML
ISSN	07618425
Issue Number	7
Journal	Revue des Maladies Respiratoires
Volume Number	33
e-ISSN	17762588
Language	French
Publisher	Elsevier
Publisher Date	2016-09-01
Publisher Place	France
Access Restriction	Subscribed
Subject Keyword	Discipline Pulmonary Medicine
Alternative Title	Alpha-1 antitrypsin deficiency caused by Null mutation
Content Type	Text
Resource Type	Article
Subject	Pulmonary and Respiratory Medicine

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