抄録
A 42-year-old woman with severe deficient variant of α1-antitrypsin (α1-AT) wasfound in Nichinan City, Miyazaki Prefecture, in May 1978.
She was asymptomatic and gave no previous history of recurrent bronchitis or liver disease. Physical examination on admission and function tests of the lung, liver and pancreas showed nothing remarkable.
The proband had an α1-AT concentration of 17.9mg per 100ml, approximately 10% of the normal level, and had low trypsin inhibitory capacity, 0.104 trypsin mg per ml, in contrast with normal average level, 0.653, determined in our laboratory. Genetic phenotyping by acid starch gel, crossed immunoelectrophoresis and isoelectric focusing showed a Pi M-like phenotype.
Liver tissue obtained by peritoneoscopic biopsy was subjected to periodic acid-Schiff (PAS) staining after diastase digestion, and revealed the unusual PAS positive intracytoplasmic globules in the periportal hepatocytes, typical of those seen with severe α1-AT deficiency, Pi ZZ. The globules were antigenically identical with or related to α1-AT by immunofluorescent technique.
Family studies revealed that her parents were second cousins, and her younger sister had the same severe α1-AT deficiency, and ten other relatives had intermediate deficiency.
None of the family members examined had clinical signs or symptoms of pulmonary or liver disease.
This new variant of α1-AT was named Pi MNichinan according to Fagerhol's nomenclature.
