Alpha 1-antitrypsin deficiency overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''Alpha 1-antitrypsin deficiency''' ('''A1AD''' or '''Alpha-1''') is a [[genetic disorder]] caused by defective production of [[alpha 1-antitrypsin]], deficient activity in the blood and [[lungs]], and deposition of excessive amounts of abnormal A1AT [[protein]] in [[liver]] cells.<ref name=Stoller_2005>{{cite journal | author = Stoller J, Aboussouan L | title = Alpha1-antitrypsin deficiency. | journal = Lancet | volume = 365 | issue = 9478 | pages = 2225-36 | year = | id = PMID 15978931}}</ref> There are several forms and degrees of deficiency. Severe A1A deficiency causes [[emphysema]] and/or [[COPD]] in adult life in nearly all people with the condition, various liver diseases in a minority of children and adults, and occasionally more unusual problems.<ref name=Needham_2004>{{cite journal | author = Needham M, Stockley RA | title = α1-antitrypsin deficiency 3: Clinical manifestations and natural history. | journal = Thorax | volume = 59 | issue = | pages = 441-5 | year = 2004 | id = PMID 15115878}}</ref> It is treated by avoidance of damaging inhalants, by [[intravenous infusion]]s of the A1AT protein, by [[transplantation]] of liver or lungs, and by a variety of other measures, but it usually produces some degree of [[disability]] and shortens life. | '''Alpha 1-antitrypsin deficiency''' ('''A1AD''' or '''Alpha-1''') is a [[genetic disorder]] caused by defective production of [[alpha 1-antitrypsin]], deficient activity in the blood and [[lungs]], and deposition of excessive amounts of abnormal A1AT [[protein]] in [[liver]] cells.<ref name=Stoller_2005>{{cite journal | author = Stoller J, Aboussouan L | title = Alpha1-antitrypsin deficiency. | journal = Lancet | volume = 365 | issue = 9478 | pages = 2225-36 | year = | id = PMID 15978931}}</ref> There are several forms and degrees of deficiency. Severe A1A deficiency causes [[emphysema]] and/or [[COPD]] in adult life in nearly all people with the condition, various liver diseases in a minority of children and adults, and occasionally more unusual problems.<ref name=Needham_2004>{{cite journal | author = Needham M, Stockley RA | title = α1-antitrypsin deficiency 3: Clinical manifestations and natural history. | journal = Thorax | volume = 59 | issue = | pages = 441-5 | year = 2004 | id = PMID 15115878}}</ref> It is treated by avoidance of damaging inhalants, by [[intravenous infusion]]s of the A1AT protein, by [[transplantation]] of liver or lungs, and by a variety of other measures, but it usually produces some degree of [[disability]] and shortens life. | ||
==References== | ==References== | ||
Revision as of 01:51, 27 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin, deficient activity in the blood and lungs, and deposition of excessive amounts of abnormal A1AT protein in liver cells.[1] There are several forms and degrees of deficiency. Severe A1A deficiency causes emphysema and/or COPD in adult life in nearly all people with the condition, various liver diseases in a minority of children and adults, and occasionally more unusual problems.[2] It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of liver or lungs, and by a variety of other measures, but it usually produces some degree of disability and shortens life.