In this article, we review the literature concerning the basic defect, inheritance, pathogenesis of lung disease, clinical, physiologic, and roentgenographic findings in patients with severe (Pi SZ) deficiency of alpha 1-AT.
This airspace enlargement may represent the early stage of lung disease in AAT-deficient subjects and suggests that pulmonary anatomic changes may occur long before the onset of clinically and pathologically significant emphysema.
The highest alpha 2-macroglobulin concentrations were found in the PI Q0 patients (5 with emphysema, 2 with no lung disease), and these patients had almost no circulating alpha 1-antitrypsin.
Levels of immunoreactive (IR) human NH2 terminal (HNT) of pro-opiomelanocortin were determined serially in 80 patients with various pulmonary carcinomas, 20 patients with various pulmonary diseases without proven carcinoma, and 32 normal control subjects.Sixty +/- 14% (S.E.)
Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother. A review of the literature.
We show how these probes can be used for diagnosis and to study molecular variants of alpha 1-antitrypsin which may predispose individuals to develop lung disease.
CF arthritis can be contrasted with CF induced HPO, which is associated with worse lung disease, a male predominance, and an older mean age of onset of symptoms.
The patient is heterozygous for an alteration in the A2M gene; this may be responsible for his serum A2M deficiency and may be relevant to the early onset of pulmonary disease in his case.
The patient is heterozygous for an alteration in the A2M gene; this may be responsible for his serum A2M deficiency and may be relevant to the early onset of pulmonary disease in his case.
PiZ, a mutant human alpha 1-antitrypsin, is associated with liver and pulmonary disease and is characterized by defective secretion and accumulation of the protein in the endoplasmic reticulum.
To gain insight into the variable expression of lung disease in alpha 1-antitrypsin (alpha 1AT) deficiency, five quantitative variables including forced expiratory volume at 1 sec (FEV1), forced expiratory flow rate between 25 and 75% of forced vital capacity (FEF25-75), total serum alpha 1AT, oxidized serum alpha 1AT, and total serum immunoglobulin E (IgE) were measured in alpha 1AT deficient individuals and their families.
The finding that increased Mn-SOD in distal respiratory epithelial cells confers protection from oxygen injury provides a basis for novel therapies to protect lung from injury during oxygen therapy of acute and chronic lung diseases.
The common fatal hereditary disorders, alpha 1-antitrypsin (alpha 1AT) deficiency and cystic fibrosis (CF), are clinical models for the common lung diseases, emphysema and chronic bronchitis, respectively.
alpha 1-Antitrypsin (AAT) deficiency is associated with predisposition to developing liver cirrhosis in early childhood, and chronic degenerative lung disease in early adult life.
Adenovirus-mediated delivery of the normal CFTR cDNA and correction of the CF epithelial cell Cl- secretory phenotype suggests the feasibility of gene therapy for CF lung disease.
We have identified a point mutation in intron 19 of CFTR and abnormal epithelial function in patients who have cystic fibrosis-like lung disease but normal sweat chloride values.