&alph;1-Antitrypsin deficiency 3: Clinical manifestations and natural history

Needham, M.; Stockley, R. A.
May 2004
Thorax;May2004, Vol. 59 Issue 5, p441
Academic Journal
It has been long recognized that α 1 antitrypsin (AAT) deficiency is associated with an increase in clinical symptoms and diseases in several systems. Patients may be diagnosed with AAT deficiency after presentation with symptoms or through family screening of an index case. Close association between AAT deficiency and the development of emphysema was first described in the year 1963. The disease in these patients is usually of an earlier onset than in patients with chronic obstructive pulmonary disease.


Related Articles

  • Alpha-1 antitrypsin deficiency. Primhak, R. A.; Tanner, M. S. // Archives of Disease in Childhood;Jul2001, Vol. 85 Issue 1, p2 

    α-1 antitrypsin is synthesized in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. &alpha-1 antitrypsin deficiency is a common autosomal recessive condition in which liver disease results from retention of abnormal polymerised α-1 antitrypsin in the...

  • A novel model and molecular therapy for Z alpha-1 antitrypsin deficiency. McNab, Gillian; Dafforn, Timothy; Wood, Alice; Sapey, Elizabeth; Stockley, Robert // Mammalian Genome;Apr2012, Vol. 23 Issue 3/4, p241 

    Animal models that closely resemble human disease can present a challenge. Particularly so in alpha-1 antitrypsin deficiency (αATD), as the mouse alpha-1 antitrypsin (αAT) cluster encodes five highly related genes compared with the one in humans. The mouse PI2 homologue is closest to the...

  • Emphysema Drug Found in Smoking Mice. Tolchin, Elizabeth // Drug Discovery & Development;Nov2004, Vol. 7 Issue 11, p18 

    Cites the result of a study pertaining to the role of recombinant alpha 1-antitrypsin (rAAT) in preventing lung tissue breakdown caused by cigarette smoking. Efficacy of rAAT in the treatment of smokers' emphysema.

  • alpha1-antitrypsin deficiency. Peters, Michael // BMA A-Z Family Medical Encyclopedia;2004, p33 

    An encyclopedia entry for "alpha1-antitrypsin deficiency" is presented. It refers to a rare genetic disorder wherein a person does not have the alpha1-antitrypsin enzyme which is responsible for protecting the body from damages caused by other enzymes. It can lead to emphysema and cirrhosis.

  • α1-ANTITRYPSIN AND α1-ANTITRYPSIN PHENOTYPING  // Davis's Comprehensive Handbook of Laboratory & Diagnostic Tests ;Jan2006, p164 

    αSB1sb-AT is the main glycoprotein produced by the liver. Its inhibitory function is directed against proteolytic enzymes, such as trypsin, elastin, and plasmin, released by alveolar macrophages and bacteria. In the absence of αSB1sb-AT, functional tissue is destroyed by proteolytic...

  • University College London Collaboration Aims to Treat Alpha-1-Antitrypsin Deficiency (Case study). Lomas, David // International Labmate;Apr2014, Vol. 39 Issue 3, p52 

    The article presents a case study of treating Alpha-1 antitrypsin deficiency.

  • Divertículo da traqueia infectado: um caso de associação rara com deficiência de alfa-1 antitripsina. Alves Amaral, Cecília Beatriz; Silva, Sónia; Feijó, Salvato // Jornal Brasileiro de Pneumologia;nov/dez2014, Vol. 40 Issue 6, p669 

    Tracheal diverticulum, defined as a benign outpouching of the tracheal wall, is rarely diagnosed in clinical practice. It can be congenital or acquired in origin, and most cases are asymptomatic, typically being diagnosed postmortem. We report a case of a 69-year-old woman who was hospitalized...

  • Chronic obstructive pulmonary disease. Knott, Laurence // GP: General Practitioner;5/30/2008, p26 

    The discusses the chronic obstructive pulmonary disease (COPD). Patients who are diagnosed with chronic bronchitis or emphysema acquired COPD. The risk factors of COPD including smoking, exposure to noxious gases and particles and hereditary alpha1-antitrypsin deficiency are discussed. It offers...

  • ILL-FATED LUNGS. Fields, Helen // U.S. News & World Report;11/3/2003, Vol. 135 Issue 15, p59 

    Reports that people with chronic bronchitis or emphysema should be tested for a deficiency in the alpha-1 antitrypsin protein. What the protein does in the lungs; Comment of John Walsh, president of the Alpha-1 Foundation, on the new guidelines and diagnosis.


Read the Article


Sign out of this library

Other Topics