A new variant of alpha-1-antitrypsin deficiency (Siiyama) associated with pulmonary emphysema.
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 greater than the normal decline in FEV 1.0 (-380 ml/yr). Treatment with tamoxifen in order to raise the serum AAT level only resulted in an insufficient increase. Augmentation therapy of human AAT should be considered in the future.
Takabe
K
K
Department of Internal Medicine, Hokushin General Hospital, Nagano, Japan.
Seyama
K
K
Shinada
H
H
Nouchi
T
T
Miyahara
Y
Y
Nukiwa
T
T
Miyake
K
K
Tsukimoto
K
K
Ichioka
M
M
Marumo
F
F
D000328:Adult; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010375:Pedigree; D011656:Pulmonary Emphysema / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics; D013629:Tamoxifen / Q000627:therapeutic use; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin; D013629:Tamoxifen