6533b839fe1ef96bd12a676a

RESEARCH PRODUCT

Liver cirrhosis associated with heterozygous alpha-1-antitrypsin deficiency type Pi MS and autoimmune features.

Hans-peter DienesK. H. Meyer Zum BüschenfeldeG. GerkenJörg F. SchlaakJ. LorenzHanns F. Löhr

subject

AdultLiver CirrhosisMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyHeterozygoteCirrhosisT-LymphocytesAlpha (ethology)medicine.disease_causeAutoimmunityAutoimmune DiseasesImmunoenzyme TechniquesInternal medicinealpha 1-Antitrypsin DeficiencyPiMedicineHumansProtease inhibitor (pharmacology)ObesityAutoimmune diseaseAlpha 1-antitrypsin deficiencybusiness.industryGastroenterologymedicine.diseaseTrypsin deficiencyFlow CytometryAlcoholismMicroscopy ElectronEndocrinologyPhenotypeLiveralpha 1-AntitrypsinCytokinesbusiness

description

Patients with homozygous protease inhibitor (Pi) type ZZ or a few rare M-like types may develop liver cirrhosis due to intracellular storage of alpha-antitrypsin (AAT), whereas some patients with heterozygous Pi MZ or SZ normally present with transient abnormal liver function tests in childhood. We report a 42-year-old obese patient who developed liver cirrhosis in association with heterozygous Pi MS (AAT) deficiency. Immunohistological and electron microscope examination showed storage of AAT in the hepatocytes. Interestingly, autoimmune features in this patient suggest that abnormal immune responses may contribute to the pathology of chronic liver disease.

yearjournalcountryeditionlanguage
1995-01-01Digestion
10.1159/000201220https://pubmed.ncbi.nlm.nih.gov/7895931