Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alpha-1-antitrypsin deficiency is responsible for emphysema in adults. The genetic polymorphism of this protein (Pi system) is used to detect these deficiencies. The relationship between the serum protease inhibitory capacities and M, MZ and Z Pi phenotypes was investigated. 120 sera including 31 M, 33 MZ and 56 Z were studied. The alpha-1-antitrypsin concentration varied according to the Pi phenotype, the sex and the health of the subject. The alpha-2-macroglobulin level did not depend on the Pi phenotype. The trypsin inhibitory capacity fluctuated with the age and the health of the subject, but did not faithfully represent the Pi phenotype. In contrast, the elastase inhibitory capacity depended only on the Pi phenotype. The relationship between alpha-1-antitrypsin levels and the serum elastase inhibitory capacities was linear. Canonical analysis was employed to determine the relative contributions of each antiprotease to the two inhibitory capacities. It appeared that the elastase inhibitory capacity was influenced more by the alpha-1-antitrypsin level while the trypsin inhibitory capacity was more sensitive to alpha-2-macroglobulin.
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PMID:Tryptic and elastolytic inhibitory capacities of serum from various Pi phenotypes. 8 98

Alpha-1-antitrypsin deficiency of genotype PiZ was found in 15 persons (6.3 per cent) out of an autopsy series of 238. The hepatic tissue was screened after diastase digestion and PAS staining. The globules demonstrated thereby showed by the immunoperoxidese reaction an antigenic identity with alpha-1-antitrypsin. It is estimated that one of the persons was homozygous, the others heterozygous. Among the latter, pulmonary emphysema was rather more common than found previously, whereas the hepatic changes were not quite so pronounced.
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PMID:Alpha-antitrypsin deficiency. Experience from an autopsy material. 30 31

Severe, largely irreversible obstructive lung disease, compatible with emphysema, was found in a 14-yr-old white girl who had been considered to have chronic asthma. She also presented a serum alpha-1 antitrypsin deficiency. Serum values for alpha-1 antitrypsin on two occassions were 95 and 105 mg/100 ml; Pi type was SZ. A family survey disclosed a 13-yr-old brother with the same pattern of alpha-1 antitrypsin deficiency. His serum value was 122.5 mg/100 ml; Pi type was SZ. He was asymptomatic and showed minimal pulmonary function abnormalities.
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PMID:Clinical conference: Severe obstructive lung disease in a 14-year-old girl with alpha-1 antitrypsin deficiency. 108 59

There were 1,536 lung transplants reported to the St. Louis International Lung Transplant Registry as of September 1, 1992. The number of centers performing lung transplants increased each year. The 1- and 2-year actuarial survival statistics for all transplants were 68% and 60%, respectively. The most common indication for transplantation was chronic obstructive pulmonary disease, followed by idiopathic pulmonary fibrosis, emphysema secondary to alpha-1 antitrypsin deficiency, and cystic fibrosis. Among the total of 492 deaths reported (34%), sepsis was the leading cause of death.
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PMID:Current status of lung transplantation--report of the St. Louis International Lung Transplant Registry. 130 24

Alpha-1-antitrypsin (AAT) deficiency is an inherited disorder associated with an increased prevalence of pulmonary emphysema. To date there has been no description of the appearances on CT of the emphysema associated with AAT deficiency. We have reviewed the CT scans of 17 patients with proven AAT deficiency. Eleven out of 17 were examined with HRCT. The CT features were correlated with those on chest radiography. Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature were present in all cases. Frank bulla formation occurred in 7/17 patients and was not a major feature. A striking CT finding was bronchial wall thickening and/or dilatation in 7/17 patients with gross cystic bronchiectasis in one patient. In contrast to appearances on chest radiography the upper zones were affected in all cases (17/17) and fine section scanning was particularly valuable in demonstrating changes in these less severely affected regions. Estimation of the extent of disease correlated well with abnormal lung function tests.
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PMID:High resolution computed tomography (HRCT) in emphysema associated with alpha-1-antitrypsin deficiency. 139 84

alpha 1 antitrypsin deficiency is associated with predisposition to the development of pulmonary emphysema and childhood cirrhosis. There are two common deficiency alleles in the European population, proteinase inhibitor (Pi) Z and S. In addition, there are rare Pinull or QO variants which can be difficult to diagnose. A family assigned as having the PiQO allele by AAT protein quantification and isoelectric focusing was shown by DNA sequencing to have the PiMheerlen mutation (Pro369-Leu). This highlights the difficulties of diagnosis of PiQO.
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PMID:What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation. 155 39

Alpha-1-antitrypsine (AAT) plasmatic level is higher (p less than 0.01) in 85 chronic inflammatory arthropathies than in 238 non inflammatory arthropathies (2.5+/0.7 versus 2.1+/0.4 g/l). Among 15 rheumatoid arthritis (RA) with evaluated phenotype, alleles M2 are less frequent and M3 more frequent than in 22 non inflammatory arthropathies (p less than 0.02). Some abnormal phenotype are observed: M2Z (AAT = 1.7) without pulmonary involvement (1 RA); M3S in 2 seronegative spondylarthropathies (1 pulmonary involvement without tobacco intoxication: DLCO/VA: 69% of theoric value; AAT = 1.4); ZZ in a systemic lupus erythematosus with panlobular emphysema and hepatic cirrhosis (AAT = 0.4). An AAT deficiency could explain some pulmonary involvements in chronic inflammatory arthropathies.
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PMID:[Alpha-1-antitrypsin deficiency in chronic inflammatory rheumatism and mechanical arthropathies. Preliminary results]. 160 23

A 43-year-old black man had an 18-year history of apical lung cystic-bullous disease. Following two episodes of spontaneous pneumothorax and two instances of thoracotomy for bullectomy and pleural abrasion, he was found to have an intermediate AAT deficiency with an MZ phenotype. It is believed that this is the first case of localized bullous lung disease to be reported in association with any degree of AAT deficiency. There is evidence that the cystic lesions progressed to form upper lobe bullae. It is postulated that the AAT deficiency may have played a role in this progression, as did the patient's cigarette smoking. Following two instances of surgery, CT scans of the lungs, compliance studies and complete pulmonary function tests show no further evidence of lung bullae or emphysema. The rarity of the Z variant of AAT in blacks is discussed.
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PMID:Intermediate alpha 1-antitrypsin deficiency with apical lung bullae and spontaneous pneumothorax. Presence of a Z variant in an American black. 203 55

Alpha-1-antitrypsin deficiency (A1ATD) is one of the most common lethal hereditary disorders. Approximately 5 to 10% of the general population carry an "at risk" gene for the development of liver disease or emphysema of the lung. Patients with A1ATD associated liver disease constitute a histologically and clinically heterogeneous group. The pathogenesis of the disease still remains to be elucidated. Recent experimental evidence produced in the transgenic mouse model is in favour of the engorgement hypothesis considering the deposition of amorphous A1AT in the hepatocytes the prime event causing liver disease. This theory, however, fails to explain the clinical observation of the presence of a number of other factors known to cause chronic liver disease in A1ATD patients. The latter observation is in support of the deficiency theory, which explains the pathogenesis of emphysema of the lung, and would point to A1ATD as a predisposition to acquire chronic disease. The meaning of the increased synthesis of stress proteins in patients with liver disease is still speculative.
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PMID:[Pathogenesis of liver disease in alpha 1-antitrypsin deficiency]. 209 68

Severe alpha 1-antitrypsin (AAT) deficiency is a relatively common inherited condition in populations of Northern European heritage. Current estimates of the prevalence of the PiZ phenotype range between 1/3500 and 1/1670 in the United States. Clues to the whereabouts of the undiagnosed individuals with severe hereditary AAT deficiency can come from the existing information about the natural history and clinical course of disease. In the PiZ smoker, dyspnea develops soon after age 30 years or at least before age 40, and death from emphysema is likely by age 50. The PiZ nonsmoker has a prognosis only marginally worse than that of the susceptible smoker without AAT deficiency. Dyspnea often does not appear until after age 50 years, and clinically significant emphysema not usually until after age 60. All infants presenting with liver disease in the neonatal period should be tested for the deficiency. In adults, clinically significant dyspnea in the 30s and 40s, in association with abnormal lung function, should raise the suspicion of AAT deficiency. In nonsmokers, dyspnea at any age justifies further investigation. A serum AAT level below 80 mg/dl (11 microM) is considered abnormal; individuals falling in this range should be phenotyped. The formation of a Registry for severe hereditary AAT deficiency in the United States, under the auspices of the National Heart, Lung and Blood Institute of the NIH, is also described.
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PMID:Alpha 1-antitrypsin deficiency--diagnosis, treatment, and control: identification of patients. 211 63


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