Alpha 1-antitrypsin deficiency other diagnostic studies: Difference between revisions
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{{Alpha 1-antitrypsin deficiency}} | {{Alpha 1-antitrypsin deficiency}} | ||
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==Overview== | |||
[[Patients]] with low or borderline serum levels are tested with [[Phenotype|phenotyping]] (serum levels < 100 mg/dL) by [[Isoelectric focusing|isoelectric focusing (IEF)]] is the most commonly used method to definitively detect the [[Alpha1 antitrypsin|alpha1-antitrypsin]] [[phenotype]] that indicates a risk for AATD. [[Genotyping]] uses [[DNA]] extracted from [[Mononuclear cells|circulating mononuclear blood cells]] that utilizes [[DNA]] amplification techniques with melt-curve [[analysis]]. | |||
==Other Diagnostic Studies== | |||
===Phenotyping=== | |||
[[Patients]] with low or borderline serum levels are tested with [[Phenotype|phenotyping]] (serum levels < 100 mg/dL) by [[Isoelectric focusing|isoelectric focusing (IEF)]] is the most commonly used method to definitively detect the alpha1-antitrypsin phenotype that indicates a risk for AATD.<ref name="pmid18433707">{{cite journal |vauthors=Ljujic M, Topic A, Divac A, Nikolic A, Petrovic-Stanojevic N, Surlan M, Mitic-Milikic M, Radojkovic D |title=Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants |journal=Transl Res |volume=151 |issue=5 |pages=255–9 |year=2008 |pmid=18433707 |doi=10.1016/j.trsl.2008.02.002 |url=}}</ref><ref name="pmid28178162">{{cite journal |vauthors=Al-Jameil N, Hassan AA, Buhairan A, Hassanato R, Isac SR, Al-Otaiby M, Al-Maarik B, Al-Ajeyan I |title=Genotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis |journal=Medicine (Baltimore) |volume=96 |issue=6 |pages=e6071 |year=2017 |pmid=28178162 |pmc=5313019 |doi=10.1097/MD.0000000000006071 |url=}}</ref> | |||
[[Phenotype|Phenotyping]] is required to confirm AATD. Do not initiate alpha1-antitrypsin replacement therapy without testing. | |||
* PiZZ [[Phenotypes|phenotype]] is responsible for nearly all cases of AATD [[emphysema]] and [[Liver diseases|liver disease]]. | |||
* PiSZ and PiZ/Null are other [[phenotypes]] associated with alpha1-antitrypsin [[emphysema]] and [[Liver diseases|liver disease]]. | |||
* PiNull/Null is not associated with [[Liver diseases|liver disease]] but is associated with alpha1-antitrypsin deficiency [[emphysema]]. | |||
===Genotyping=== | |||
[[Genotyping]] uses [[DNA]] extracted from [[Mononuclear cells|circulating mononuclear blood cells]] that utilizes [[DNA]] amplification techniques with melt-curve [[analysis]]. | |||
==References== | ==References== | ||
{{reflist|2}} | |||
[[Category:Gastroenterology]] | |||
[[Category:Pulmonology]] | |||
[[Category: | [[Category:Hepatology]] | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
Patients with low or borderline serum levels are tested with phenotyping (serum levels < 100 mg/dL) by isoelectric focusing (IEF) is the most commonly used method to definitively detect the alpha1-antitrypsin phenotype that indicates a risk for AATD. Genotyping uses DNA extracted from circulating mononuclear blood cells that utilizes DNA amplification techniques with melt-curve analysis.
Other Diagnostic Studies
Phenotyping
Patients with low or borderline serum levels are tested with phenotyping (serum levels < 100 mg/dL) by isoelectric focusing (IEF) is the most commonly used method to definitively detect the alpha1-antitrypsin phenotype that indicates a risk for AATD.[1][2]
Phenotyping is required to confirm AATD. Do not initiate alpha1-antitrypsin replacement therapy without testing.
- PiZZ phenotype is responsible for nearly all cases of AATD emphysema and liver disease.
- PiSZ and PiZ/Null are other phenotypes associated with alpha1-antitrypsin emphysema and liver disease.
- PiNull/Null is not associated with liver disease but is associated with alpha1-antitrypsin deficiency emphysema.
Genotyping
Genotyping uses DNA extracted from circulating mononuclear blood cells that utilizes DNA amplification techniques with melt-curve analysis.
References
- ↑ Ljujic M, Topic A, Divac A, Nikolic A, Petrovic-Stanojevic N, Surlan M, Mitic-Milikic M, Radojkovic D (2008). "Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants". Transl Res. 151 (5): 255–9. doi:10.1016/j.trsl.2008.02.002. PMID 18433707.
- ↑ Al-Jameil N, Hassan AA, Buhairan A, Hassanato R, Isac SR, Al-Otaiby M, Al-Maarik B, Al-Ajeyan I (2017). "Genotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis". Medicine (Baltimore). 96 (6): e6071. doi:10.1097/MD.0000000000006071. PMC 5313019. PMID 28178162.