Alpha-1 antitrypsin Null mutations and severity of emphysema
نویسندگان
چکیده
منابع مشابه
Alpha-1 antitrypsin Null mutations and severity of emphysema.
BACKGROUND Alpha-1 antitrypsin (AAT) deficiency is an autosomal-codominant disorder, caused by mutations in the SERPINA1 gene on chromosome 14. Individuals affected by the most common mutations, SZ and ZZ, have serum AAT concentrations of 25% and 15% of normal levels, and present a higher risk of emphysema. Mutations causing total absence of serum AAT (Null mutations) were suggested to be assoc...
متن کاملSerum alpha 1 antitrypsin and pulmonary emphysema.
Using isoelectric focusing (IEF) and radial immunodiffusion (RID) techniques, serum samples from 100 normal healthy adults and 21 patients with pulmonary emphysema were analysed to identify various alpha 1 antitrypsin phenotypes and the serum concentrations. Ten percent of the patients had low serum values. The normal or most common genetic form, MM, is the predominant phenotype in both control...
متن کاملAlpha 1-antitrypsin-deficiency-related emphysema.
BACKGROUND A congenital cause of emphysema resulting from alpha 1-antitrypsin (A1AT) deficiency affects 1 in 2500 individuals and could account for emphysema in 2 percent of all persons with emphysema. Individuals aged 30 to 45 years with chronic shortness of breath and coughing could have A1AT deficiency. METHODS Using the key words "alpha 1-antitrypsin deficiency," "chronic obstructive pulm...
متن کاملEmphysema and bronchiectasis secondary to alpha-1 antitrypsin deficiency.
A 47-year-old Caucasian male presented to the chest clinic with a 4-week history of exertional dyspnea. A chest radiograph showed mild hyperinflation without any focal pathology and spirometry showed a mild obstructive defect. In view of symptoms being disproportionate to spirometric and radiologic abnormalities, a thoracic CT scan was obtained. It revealed that there was evidence of bronchiect...
متن کاملThe Role of Alpha–1 Antitrypsin in Emphysema
Alpha-1 antitrypsin (AT) is a member of the serine proteinase inhibitor (SERPIN) superfamily. It is an acute phase protein produced constitutively, primarily by hepatocytes, and is secreted in to the plasma from where it diffuses into the lung. AT is the most abundant proteinase inhibitor within the lung whose main physiological role is to regulate neutrophil elastase (NE) liberated from activa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Respiratory Medicine
سال: 2008
ISSN: 0954-6111
DOI: 10.1016/j.rmed.2008.01.009