Deficiency in alpha 1 antitrypsin in a case of adult Pi M phenotype with hepatocellular overcharge
Khodjet El Khil, A.; Khodjet El Khil, R.
Archives de l'Institut Pasteur de Tunis 57(4): 409-425
1980
ISSN/ISBN: 0020-2509 PMID: 6973958 Document Number: 159403
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.