[Alpha 1-antitrypsin deficiency (Siiyama) with pulmonary emphysema].
A 44-year-old man was admitted to the hospital with dyspnea on exertion. Chest radiographs and pulmonary function tests showed evidence of pulmonary emphysema. Serum alpha 1-antitrypsin (alpha 1-AT) could not be detected by nephelometry, immuno-electrophoresis, or iso-electric focusing. However, allele-specific PCR revealed a genotype homozygotic for an alpha 1-AT deficient variant of the Siiyama allele. An elder sister of the proband was also a homozygous carrier of the Siiyama allele. The amino acid sequence for normal alpha 1-AT variants had been substituted by Arg101-Val213-Glu376 in the proband, demonstrating that the alpha 1-antitrypsin-deficient Siiyama variant in this pedigree was derived from M 1 (Val213).
Kadono
K
K
Department of Pulmonary Medicine, Tsukuba University, Ibaraki, Japan.
Sakamoto
T
T
Ohtsuka
M
M
Kanashiki
M
M
Murakami
O
O
Hagiya
M
M
Ishii
Y
Y
Nomura
A
A
Satoh
H
H
Inoue
M
M
Uchida
Y
Y
Homma
T
T
Sekizawa
K
K
Hasegawa
S
S
D000328:Adult; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011656:Pulmonary Emphysema / Q000378:metabolism*; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism
D000515:alpha 1-Antitrypsin; C097145:alpha 1-antitrypsin Siiyama