Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0086543 (
cataract
)
29,165
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:[Deficiency in alpha 1 antitrypsin in a case of adult Pi M phenotype with hepatocellular overcharge]. 697 58
