The prevalence of alpha-1 antitrypsin deficiency in Ireland

T.P. Carroll; C.A. O'Connor; O. Floyd; J. McPartlin; D.P. Kelleher; G. O'Brien; B.D. Dimitrov; V.B. Morris; Clifford Taggart; N.G. McElvaney

doi:10.1186/1465-9921-12-91

The prevalence of alpha-1 antitrypsin deficiency in Ireland

T.P. Carroll, C.A. O'Connor, O. Floyd, J. McPartlin, D.P. Kelleher, G. O'Brien, B.D. Dimitrov, V.B. Morris, Clifford Taggart, N.G. McElvaney

Research output: Contribution to journal › Article › peer-review

51 Citations (Scopus)

Abstract

Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.

Original language	English
Article number	91
Journal	Respiratory Research
Volume	12:91
DOIs	https://doi.org/10.1186/1465-9921-12-91
Publication status	Published - 13 Jul 2011

ASJC Scopus subject areas

Pulmonary and Respiratory Medicine

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title = "The prevalence of alpha-1 antitrypsin deficiency in Ireland",

abstract = "Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.",

author = "T.P. Carroll and C.A. O'Connor and O. Floyd and J. McPartlin and D.P. Kelleher and G. O'Brien and B.D. Dimitrov and V.B. Morris and Clifford Taggart and N.G. McElvaney",

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doi = "10.1186/1465-9921-12-91",

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T1 - The prevalence of alpha-1 antitrypsin deficiency in Ireland

AU - Carroll, T.P.

AU - O'Connor, C.A.

AU - Floyd, O.

AU - McPartlin, J.

AU - Kelleher, D.P.

AU - O'Brien, G.

AU - Dimitrov, B.D.

AU - Morris, V.B.

AU - Taggart, Clifford

AU - McElvaney, N.G.

PY - 2011/7/13

Y1 - 2011/7/13

N2 - Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.

AB - Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.

U2 - 10.1186/1465-9921-12-91

DO - 10.1186/1465-9921-12-91

M3 - Article

VL - 12:91

JO - Respiratory Research

JF - Respiratory Research

SN - 1465-9921

M1 - 91

ER -