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At least 181 records · Page 10Linked to original sources
PubMed1990

Aspects of treatment in alpha 1-antitrypsin deficiency: insights derived from a Swedish PiZZ series.

Data were analysed on 158 adult Swedish alpha 1-antitrypsin deficient individuals homozygous for the proteinase inhibitor allele (PiZZ), followed from 1963-1982. The initial forced expiratory volume in one second (FEV1) increased from 1.4 l in the early cohort to 1.9 l (p less than 0.001) in the late cohort of the study period but mean age (47 yrs) and the percentage of smokers (72%) remained unchanged. Smokers were found to have significantly lower FEV1 levels (p less than 0.01) and higher (p less than 0.005) mortality than non-smokers. The differences between current and ex-smokers in mortality and FEV1 level, however, were not significant. Longitudinal analysis of FEV1 rates of decline in 80 cases with follow-up FEV1 measurements failed to detect any significant difference between current and ex-smokers but investigations were performed late in the disease process. Low initial FEV1 value was found to be significantly associated with increased mortality (p less than 0.005). In order to detect a 40% difference in the rate of FEV1 decline as an outcome variable, 253 patients plus controls must be included in follow-up studies of replacement therapy. With mortality of severely affected patients as outcome variable only, 144 treated and untreated patients would be required. The need for earlier diagnosis and intervention against smoking in these cases is emphasized.

Adolescent↗
PubMed1987

[Alpha 1-antitrypsin phenotypes and their role in medical diagnosis].

Alpha-1-antitrypsin is a glycoprotein of blood exhibiting the properties of a proteolytic enzymes inhibitor. It occurs in a number of polymorphic variants transmitted genetically, the differentiation of which enables to use electrophoretic methods. The authors surveys literature, involving also her own experience, on the diagnostic use of alpha-1-antitrypsin phenotypes. The variants related to alpha-1-AT deficiency are associated with an increased incidence of certain diseases: obstructive pulmonary disease, liver cirrhosis in children, cancer. An early establishment of alpha-1-antitrypsin phenotype may be significant for occupational prevention, furthermore, it may be helpful in the highlighting of etiology of certain liver diseases in early childhood.

Adult↗
PubMed1982

Screening test for alpha 1-antitrypsin in dried-blood specimens.

We describe a fluorescent spot test for detecting alpha 1-antitrypsin activity in dried-blood specimens. The eluate of a blood disc is mixed with carbobenzoxy-L-arginine-7-amino-4-methylcoumarin amide and trypsin at the appropriate pH. In the absence of alpha 1-antitrypsin, aminomethylcoumarin, a strongly fluorescent compound, is released. The reaction mixture, when spotted on chromatography paper and viewed under ultraviolet light, exhibits a bright fluorescence only in the case of specimens with alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin activity so estimated correlated well with quantitative assays of dried-blood spots and serum. The procedure is simple and inexpensive, and has the potential for use as a screening test.

Adult↗
PubMed1995

Clinical manifestations of alpha 1-antitrypsin deficiency.

Alpha 1-antitrypsin deficiency is the most common genetic cause of liver disease in infants and children and is the most common genetic disease for which liver transplantation is indicated. This article presents the clinical manifestations, diagnosis, treatment, and pathogenesis of alpha 1-antitrypsin deficiency.

Child↗
PubMedDate not supplied

Alpha-1 antitrypsin protease inhibitor typing in immobilized pH gradients.

Alpha-1 antitrypsin deficiency is a cause of liver disease in neonates and emphysema in adults. Protein phenotypes are identified by isoelectric focusing using polyacrylamide gels. The Pharmacia Phastsystem was utilized for electrophoresis in miniature gels to identify heterozygotes for the deficiency. Protein phenotypes were identified by isoelectric focusing in a fixed pH gradient from 4.3 to 5 using the Pharmacia Phastsystem for automated electrophoresis and staining of gels. The gradient is formed with Immobilines to create gels of dimensions 50 x 43 x 0.5 mm. The processing time for 16 specimens is one hour and 45 minutes. This method is a rapid, automated method for the analysis of alpha-1 antitrypsin phenotypes and for establishing the diagnosis of a genetic deficiency of this protein.

Genetic Carrier Screening↗
PubMed1993

Ruptured mesenteric artery aneurysm in a patient with alpha 1-antitrypsin deficiency: etiologic implications.

Clinical observations suggest that some aneurysms may be manifestations of intrinsic tissue abnormalities or systemic disease. Several investigators have reported reduced elastin content and increased elastase activity in infrarenal aortic aneurysms. Alpha 1-antitrypsin is the primary serum protease inhibitor modulating elastase activity. Elevated elastase activity caused by reduced alpha 1-antitrypsin inhibition, theoretically, could contribute to aneurysm formation. We report a case of ruptured middle colic artery aneurysm in a patient with multiple visceral artery aneurysms and profound alpha 1-antitrypsin deficiency. Reported middle colic artery aneurysms are reviewed, and etiologic implications are discussed.

Aneurysm, Ruptured↗
PubMed1993

A study on the lung function in alpha 1-antitrypsin-deficient (PiMZ) patients.

Laurel and Eriksson published the first report indicating that alpha 1-antitrypsin deficiency predisposed patients to the development of Chronic Obstructive Pulmonary Disease (COPD). For the purpose of early detection, disturbances of pulmonary function in alpha 1-antitrypsin mild deficiency cases (PiMZ) were compared with those of normal cases (PiMM) in caucasian Americans. The marked results are as follows. 1) Parameters of flow-volume curves were more disturbed in PiMZ cases than in PiMM cases. 2) Volumes of isoflow are specially different between PiMZ and PiMM cases. 3) Mechanical properties, like lung work of breathing, were larger in PiMZ cases than in PiMM cases.

Adult↗