[Deficiency in alpha 1 antitrypsin in a case of adult Pi M phenotype with hepatocellular overcharge].
The authors point out a case of intrahepatic cells overload of PAS positive, globules and resistant to amylase digestion in a young Tunisian women of 26 years old with an hepatopathy looking like the one encountered in phenotype Pi Z subjects and a recently appeared total bilateral cataract. The patient and also 4 of the 5 members of her family have a lowered alpha 1 antitrypsin rate serum but the whole family is homozygote phenotype Pi M. The association alpha 1 antitrypsin deficiency bilateral cataract has not been described to our knowledge. The literature review pointing out similar globules in phenotype Pi M subjects and our observation remind us of the possibility of more complicated metabolic trouble of liver, the alpha 1 antitrypsin intrahepatic cells overload of which should be one of its clinical mode of expression.
D000328:Adult; D002386:Cataract / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency
Déficit en Alpha antitrypsine: à propos d'un cas chez un adulte de phénotype Pi M avec surcharge hépatocytaire.