EDITORIAL

₁-Antitrypsin deficiency

₁-Antitrypsin deficiency

J K Stoller

Correspondence to:
Correspondence to:
J K Stoller
Division of Medicine, Cleveland Clinic Lerner College of Medicine, Section of Respiratory Therapy, Department of Pulmonary/Critical Care Medicine, Cleveland Clinic Foundation, 9500 Euclid Av, Cleveland OH 44195, USA; stollej@ccf.org

---

A new series focusing on this important and under-recognised illness

---

Keywords: 1-antitrypsin deficiency

The first 150 words of the full text of this article appear below.

Alpha₁-antitrypsin (AAT) deficiency is a common but under-recognised clinical entity.^1–3 The editors of Thorax have therefore commissioned a series of papers by internationally recognised experts on the key clinical and investigative concepts in this important disease, which will offer the reader an up to date summary of AAT deficiency. Topics to be addressed include:

• the epidemiology of AAT deficiency;
  
• genetic aspects of AAT deficiency: phenotypes and genetic modifiers of emphysema;
  
• clinical manifestations and natural history of AAT deficiency;
  
• molecular pathophysiology of AAT deficiency;
  
• pathogenesis of lung disease in AAT deficiency;
  
• intravenous augmentation therapy for AAT deficiency: current understanding;
  
• new and emerging therapies for AAT deficiency; and
  
• CT imaging in AAT deficiency.
  

Why this attention to AAT deficiency now? As mentioned above, despite the fact that it affects up to one in 1600 newborn infants,² AAT deficiency is both under-recognised and "under-understood".³ As evidence of this under-recognition, in . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Hogarth, D. K., Rachelefsky, G. (2008). Screening and Familial Testing of Patients for {alpha}1-Antitrypsin Deficiency. Chest 133: 981-988 [Abstract] [Full Text]  
• Prins, J., van der Meijden, B. B., Kraaijenhagen, R. J., Wielders, J. P.M. (2008). Inherited Chronic Obstructive Pulmonary Disease: New Selective-Sequencing Workup for {alpha}1-Antitrypsin Deficiency Identifies 2 Previously Unidentified Null Alleles. Clin. Chem. 54: 101-107 [Abstract] [Full Text]  
• Kaczor, M. P., Sanak, M., Szczeklik, A. (2007). Rapid and Inexpensive Detection of {alpha}1-Antitrypsin Deficiency-Related Alleles S and Z by a Real-Time Polymerase Chain Reaction Suitable for a Large-Scale Population-Based Screening. J. Mol. Diagn. 9: 99-104 [Abstract] [Full Text]  
• Brantly, M. (2006). Efficient and Accurate Approaches to the Laboratory Diagnosis of {alpha}1-Antitrypsin Deficiency: The Promise of Early Diagnosis and Intervention. Clin. Chem. 52: 2180-2181 [Full Text]  
• Genuneit, J, Weinmayr, G, Radon, K, Dressel, H, Windstetter, D, Rzehak, P, Vogelberg, C, Leupold, W, Nowak, D, von Mutius, E, Weiland, S K (2006). Smoking and the incidence of asthma during adolescence: results of a large cohort study in Germany. Thorax 61: 572-578 [Abstract] [Full Text]  
• Buhl, R., Farmer, S. G. (2005). Future Directions in the Pharmacologic Therapy of Chronic Obstructive Pulmonary Disease. Proc Am Thorac Soc 2: 83-93 [Abstract] [Full Text]  
• Wedzicha, J A, Johnston, S L, Mitchell, D M (2004). Thorax annual report: 1 October 2003 to 30 September 2004. Thorax 59: 1012-1015 [Full Text]