Alpha-1 Antitrypsin Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency

Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.

genetic conditions

References

Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency--a model forconformational diseases. N Engl J Med. 2002 Jan 3;346(1):45-53. Review.
de Serres FJ, Blanco I, Fernández-Bustillo E. Estimated numbers and prevalenceof PI*S and PI*Z deficiency alleles of alpha1-antitrypsin deficiency in Asia. EurRespir J. 2006 Dec;28(6):1091-9.
de Serres FJ, Blanco I, Fernández-Bustillo E. Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targetedscreening. COPD. 2006 Aug;3(3):133-9. Erratum in: COPD. 2006 Dec;3(4):245.
de Serres FJ, Blanco I, Fernández-Bustillo E. Health implications ofalpha1-antitrypsin deficiency in Sub-Sahara African countries and their emigrantsin Europe and the New World. Genet Med. 2005 Mar;7(3):175-84. Review.
de Serres FJ, Blanco I, Fernández-Bustillo E. PI S and PI Z alpha-1antitrypsin deficiency worldwide. A review of existing genetic epidemiologicaldata. Monaldi Arch Chest Dis. 2007 Dec;67(4):184-208. Review.
de Serres FJ. Alpha-1 antitrypsin deficiency is not a rare disease but adisease that is rarely diagnosed. Environ Health Perspect. 2003Dec;111(16):1851-4. Review.
DeMeo DL, Silverman EK. Alpha1-antitrypsin deficiency. 2: genetic aspects ofalpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysemarisk. Thorax. 2004 Mar;59(3):259-64. Review.
Fairbanks KD, Tavill AS. Liver disease in alpha 1-antitrypsin deficiency: areview. Am J Gastroenterol. 2008 Aug;103(8):2136-41; quiz 2142. doi:10.1111/j.1572-0241.2008.01955.x. Review.
Fregonese L, Stolk J. Hereditary alpha-1-antitrypsin deficiency and itsclinical consequences. Orphanet J Rare Dis. 2008 Jun 19;3:16. doi:10.1186/1750-1172-3-16. Review.
Lomas DA, Parfrey H. Alpha1-antitrypsin deficiency. 4: Molecularpathophysiology. Thorax. 2004 Jun;59(6):529-35. Review.
Luisetti M, Seersholm N. Alpha1-antitrypsin deficiency. 1: epidemiology ofalpha1-antitrypsin deficiency. Thorax. 2004 Feb;59(2):164-9. Review.
Needham M, Stockley RA. Alpha 1-antitrypsin deficiency. 3: Clinicalmanifestations and natural history. Thorax. 2004 May;59(5):441-5. Review.
Perlmutter DH, Brodsky JL, Balistreri WF, Trapnell BC. Molecular pathogenesis of alpha-1-antitrypsin deficiency-associated liver disease: a meeting review.Hepatology. 2007 May;45(5):1313-23. Review.
Ranes J, Stoller JK. A review of alpha-1 antitrypsin deficiency. Semin Respir Crit Care Med. 2005 Apr;26(2):154-66. Review.
Stoller JK, Aboussouan LS. Myths and misconceptions about {alpha}1-antitrypsindeficiency. Arch Intern Med. 2009 Mar 23;169(6):546-50. doi:10.1001/archinternmed.2009.25.
Stoller JK, Hupertz V, Aboussouan LS. Alpha-1 Antitrypsin Deficiency. 2006 Oct27 [updated 2020 May 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1519/
Teckman JH, Lindblad D. Alpha-1-antitrypsin deficiency: diagnosis,pathophysiology, and management. Curr Gastroenterol Rep. 2006 Feb;8(1):14-20.Review.
Teckman JH. Alpha1-antitrypsin deficiency in childhood. Semin Liver Dis. 2007 Aug;27(3):274-81. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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