Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here we report a very rare alpha-1 antitrypsin Null Q0cairo homozygous mutation characterized by a complete absence of alpha-1 antitrypsin in the plasma, in a non-consanguineous Moroccan family. This mutation has been previously described in heterozygosis in only three cases worldwide: an Italian/Egyptian family and two Italian families (Zorzetto et al., 2005). The main clinical features in two members of this Moroccan family were the severity and precocity of bronchiectasis, quickly spreading and seriously limiting respiratory function and physical activity by the second decade of age. Moreover, the index case presented with many episodes of pulmonary infections concomitant with severe neutropenia. The third member of the family presented with ankylosing spondyloarthritis and developed panniculitis later but had no respiratory symptoms. The presence of this alpha-1-antitrypsin Q0cairo homozygous mutation could explain the severity of clinical manifestations. Moreover, our observations highlight a great variability of clinical expression for the same mutation: early severe bronchiectasis, panniculitis, rheumatologic manifestations. This study further underlines the importance of genotyping by whole SERPINA1 gene sequencing in addition to serum alpha-1 antitrypsin determination, to enable detection of alpha-1 antitrypsin deficiency due to rare genotypes.

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.

Phénotypes de l’alpha-1-antitrypsine dans la population togolaise : mise en évidence d’une fréquence élevée de l’allèle rare PiF dans une ethnie isolat

Introduction : plus de 100 formes alleliques ont ete decrites sur le gene de l’alpha 1 antitrypsine. Les variants normaux communs PiM1, PiM2 et PiM3 codent pour des molecules d’AAT differentes mais fonctionnelles et normalement secretees. Les variants a risque les plus frequents sont les alleles PiS et PiZ. Dans cette etude, une analyse du polymorphisme de l’alpha 1 antitrypsine en rapport avec des pathologies pulmonaires a ete conduite.Materiel et methodes : l’etude a ete realisee sur 96 patients asthmatiques, 67 emphysemateux et 318 temoins sains. Le dosage de l’AAT est realise par immunoturbidimetrie. Les phenotypes sont etudies par la technique d’isoelectrofocalisation, les genotypes sont reveles par PCR RFLP.Resultats : les frequences alleliques de PiM1, PiM2, PiM3, PiS et PiZ ont ete determines (respectivement : 0,7395 ; 0,2291 ; 0,0156 ; 0,0104 ; 0,0052 chez les asthmatiques ; 0,7547 ; 0,1716 ; 0,0298 ; 0,0298 ; 0,0149 chez les patients atteints d’emphyseme ; 0,8030 ; 0,1525 ; 0,0408 ; 0,006 ; 0,0000 chez les temoins). Les resultats revelent l’augmentation de la frequence de l’allele PiM2 chez les 2 groupes de malades, mais la difference avec le groupe des temoins n’est statiquement significative qu’avec les asthmatiques (p = 0,0179). La prevalence des 2 alleles deficitaires PiS et PiZ est augmentee dans le groupe des patients atteints d’emphyseme pulmonaire (0,0298 ; 0,0149) par rapport au groupe des asthmatiques (0,0104 ; 0,0052). Cependant, aucune variation significative entre les malades et les temoins n’a ete observee.Conclusion : l’allele PiM2 pourrait etre considere comme facteur de risque pour l’asthme dans la population tunisienne. Les alleles PiS et PiZ ont ete rarement rapportes dans la population tunisienne en comparaison aux populations europeennes temoignant d’une faible contribution de ces alleles dans le developpement des pathologies pulmonaires en Tunisie.

Polymorphisme de l’alpha 1 antitrypsine associé à l’asthme et l’emphysème pulmonaire dans une population du centre tunisien

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Polymorphisme de l’alpha 1 antitrypsine associé à l’asthme et l’emphysème pulmonaire dans une population du centre tunisien