[Long-term follow-up and autopsy of a Japanese patient who had emphysema associated with alpha 1-antitrypsin deficiency].

A 49-year-old woman was found to have emphysema associated with alpha 1-antitrypsin deficiency in February 1975. She was followed until her death in October, 1994. The Pi phenotype was M null and the genotype was M malton. She had been on home oxygen therapy since 1987. An autopsy revealed the typical bullous lungs with panacinar emphysema. We know of no previous case in Japan of emphysema associated with alpha 1-antitrypsin deficiency.