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Article

A new variant of alpha-1-antitrypsin deficiency (Siiyama) associated with pulmonary emphysema.

Internal medicine (Tokyo, Japan) - 1 May 1992

Takabe K, Seyama K, Shinada H, Nouchi T, Miyahara Y, Nukiwa T, Miyake K, Tsukimoto K, Ichioka M, Marumo F

Abstract excerpt

A 38-year-old male with pulmonary emphysema due to severely reduced serum alpha-1-antitrypsin (AAT) level (14.5 mg/dl) was found to have an inherited new AAT deficient variant Siiyama. Chest roentgenogram and CT scanning revealed advanced emphysema, and severe obstructive ventilatory impairment was observed. During the 4-year follow-up period, the annual rate of decline of FEV 1.0 showed approximately 10-fold...

Topics

Adult
Genetic Variation
Humans
Male
Pedigree
Pulmonary Emphysema
Tamoxifen
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1504439
DOI: 10.2169/internalmedicine.31.702

Genes

FEV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1504439-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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