Abstract
A genetically determined deficiency of α1-antitrypsin in 15 members of one family appeared with wheezing and progressive dyspnea in six. Because of the early age of onset of wheezing and dyspnea, it may be confused with bronchial asthma. Five of the 15 were found to have severe obstructive emphysema; one brother died at age 43 years of the disease, two have had severe hypoxia with oxygen tensions under 50 mm Hg and respiratory failure, and all five had a one-second-timed vital capacity of under 30% of predicted, residual volumes greater than 54% of total lung capacity, and marked uneveness of ventilation. Quantitation of α1-antitrypsin by radial immunoassay showed four of 13 studied to be homozygous and nine heterozygous. Total serum enzyme antitrypsin activity correlated highly with radial gel immunoassay. A hypothetical pathogenic mechanism is described.
| Original language | English |
|---|---|
| Pages (from-to) | 325-331 |
| Number of pages | 7 |
| Journal | JAMA - Journal of the American Medical Association |
| Volume | 214 |
| Issue number | 2 |
| DOIs | |
| State | Published - Oct 12 1970 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Medicine(all)
Cite this
Obstructive Lung Disease in Hereditary α1-Antitrypsin Deficiency. / Townley, Robert G.; Ryning, Frank; Lynch, Henry T.; Brody, Alfred W.
In: JAMA - Journal of the American Medical Association, Vol. 214, No. 2, 12.10.1970, p. 325-331.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Obstructive Lung Disease in Hereditary α1-Antitrypsin Deficiency
AU - Townley, Robert G.
AU - Ryning, Frank
AU - Lynch, Henry T.
AU - Brody, Alfred W.
PY - 1970/10/12
Y1 - 1970/10/12
N2 - A genetically determined deficiency of α1-antitrypsin in 15 members of one family appeared with wheezing and progressive dyspnea in six. Because of the early age of onset of wheezing and dyspnea, it may be confused with bronchial asthma. Five of the 15 were found to have severe obstructive emphysema; one brother died at age 43 years of the disease, two have had severe hypoxia with oxygen tensions under 50 mm Hg and respiratory failure, and all five had a one-second-timed vital capacity of under 30% of predicted, residual volumes greater than 54% of total lung capacity, and marked uneveness of ventilation. Quantitation of α1-antitrypsin by radial immunoassay showed four of 13 studied to be homozygous and nine heterozygous. Total serum enzyme antitrypsin activity correlated highly with radial gel immunoassay. A hypothetical pathogenic mechanism is described.
AB - A genetically determined deficiency of α1-antitrypsin in 15 members of one family appeared with wheezing and progressive dyspnea in six. Because of the early age of onset of wheezing and dyspnea, it may be confused with bronchial asthma. Five of the 15 were found to have severe obstructive emphysema; one brother died at age 43 years of the disease, two have had severe hypoxia with oxygen tensions under 50 mm Hg and respiratory failure, and all five had a one-second-timed vital capacity of under 30% of predicted, residual volumes greater than 54% of total lung capacity, and marked uneveness of ventilation. Quantitation of α1-antitrypsin by radial immunoassay showed four of 13 studied to be homozygous and nine heterozygous. Total serum enzyme antitrypsin activity correlated highly with radial gel immunoassay. A hypothetical pathogenic mechanism is described.
UR - http://www.scopus.com/inward/record.url?scp=0014942797&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0014942797&partnerID=8YFLogxK
U2 - 10.1001/jama.1970.03180020045008
DO - 10.1001/jama.1970.03180020045008
M3 - Article
C2 - 5469071
AN - SCOPUS:0014942797
VL - 214
SP - 325
EP - 331
JO - JAMA - Journal of the American Medical Association
JF - JAMA - Journal of the American Medical Association
SN - 0002-9955
IS - 2
ER -