PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Understanding alpha-1 antitrypsin deficiency: A review with an allergist's outlook.

Abstract Alpha-1 antitrypsin (AAT) is the prototypical protease inhibitor from the serine protease inhibitor (serpin) superfamily that protects lung tissue from proteolytic damage by inhibiting neutrophil elastase. Approximately 1 in 2750 to 1 in 4500 individuals have an autosomal codominant condition that leads to a deficiency of circulating AAT. In individuals with AAT deficiency (AATD), AAT is retained in liver cells, which predisposes them to liver disease, and does not reach lung tissues through circulation, where it normally acts as the primary natural regulator of proteolytic activity in the pulmonary tissues, which thus leads to lung disease. Despite being commonly labeled as a rare disease, AATD is one of the most common autosomal genetic disorders and is considered highly underrecognized, with ≤10% of individuals suspected with AATD identified. Screening guidelines have been established, and the diagnosis is easy to confirm when the condition is suspected. Early recognition is key to prevent morbidity and mortality associated with the disease. For this reason, all patients with chronic obstructive pulmonary disease and patients with asthma and fixed obstruction should be tested to exclude the diagnosis of AATD. Augmentation therapy of the deficient protein is available for those with significant lung disease and protein deficiency, and analysis of recent data supported preservation of lung tissue with this treatment. In this review, oriented toward specialists in allergy and immunology, we focused our discussion on the presentation, diagnosis, and treatment of pulmonary symptoms of AATD.
PMID
Related Publications

The Role of Neutrophils in Alpha-1 Antitrypsin Deficiency.

Alpha1-antitrypsin deficiency: forgotten etiology.

Using antisense technology to develop a novel therapy for α-1 antitrypsin deficient (AATD) liver disease and to model AATD lung disease.

Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or Immunologist's Perspective.

Authors

Mayor MeshTerms
Keywords
Journal Title allergy and asthma proceedings
Publication Year Start




PMID- 28234047
OWN - NLM
STAT- In-Process
DA  - 20170224
LR  - 20170224
IS  - 1539-6304 (Electronic)
IS  - 1088-5412 (Linking)
VI  - 38
IP  - 2
DP  - 2017 Mar 01
TI  - Understanding alpha-1 antitrypsin deficiency: A review with an allergist's
      outlook.
PG  - 98-107
LID - 10.2500/aap.2017.38.4027 [doi]
AB  - Alpha-1 antitrypsin (AAT) is the prototypical protease inhibitor from the serine 
      protease inhibitor (serpin) superfamily that protects lung tissue from
      proteolytic damage by inhibiting neutrophil elastase. Approximately 1 in 2750 to 
      1 in 4500 individuals have an autosomal codominant condition that leads to a
      deficiency of circulating AAT. In individuals with AAT deficiency (AATD), AAT is 
      retained in liver cells, which predisposes them to liver disease, and does not
      reach lung tissues through circulation, where it normally acts as the primary
      natural regulator of proteolytic activity in the pulmonary tissues, which thus
      leads to lung disease. Despite being commonly labeled as a rare disease, AATD is 
      one of the most common autosomal genetic disorders and is considered highly
      underrecognized, with </=10% of individuals suspected with AATD identified.
      Screening guidelines have been established, and the diagnosis is easy to confirm 
      when the condition is suspected. Early recognition is key to prevent morbidity
      and mortality associated with the disease. For this reason, all patients with
      chronic obstructive pulmonary disease and patients with asthma and fixed
      obstruction should be tested to exclude the diagnosis of AATD. Augmentation
      therapy of the deficient protein is available for those with significant lung
      disease and protein deficiency, and analysis of recent data supported
      preservation of lung tissue with this treatment. In this review, oriented toward 
      specialists in allergy and immunology, we focused our discussion on the
      presentation, diagnosis, and treatment of pulmonary symptoms of AATD.
FAU - Henao, Maria Paula
AU  - Henao MP
FAU - Craig, Timothy J
AU  - Craig TJ
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Allergy Asthma Proc
JT  - Allergy and asthma proceedings
JID - 9603640
EDAT- 2017/02/25 06:00
MHDA- 2017/02/25 06:00
CRDT- 2017/02/25 06:00
AID - 10.2500/aap.2017.38.4027 [doi]
PST - ppublish
SO  - Allergy Asthma Proc. 2017 Mar 1;38(2):98-107. doi: 10.2500/aap.2017.38.4027.

<?xml version="1.0" encoding="UTF-8"?>
<b:Sources SelectedStyle="" xmlns:b="http://schemas.openxmlformats.org/officeDocument/2006/bibliography"  xmlns="http://schemas.openxmlformats.org/officeDocument/2006/bibliography" >
</b:Sources>