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| ==Alpha-1 antitrypsin deficiency== | | ==Alpha-1 antitrypsin deficiency== |
| *[[AKA]] ''alpha1-antiprotease inhibitor deficiency''. | | *[[AKA]] ''alpha1-antiprotease inhibitor deficiency''. |
| ===General===
| | {{Main|Alpha-1 antitrypsin deficiency }} |
| Etiology:
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| *Genetic defect.
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| **Prevalence 1 in 2000-5000.<ref name=pmid21960536>{{Cite journal | last1 = Stoller | first1 = JK. | last2 = Aboussouan | first2 = LS. | title = A Review of Alpha-1 Antitrypsin Deficiency. | journal = Am J Respir Crit Care Med | volume = | issue = | pages = | month = Sep | year = 2011 | doi = 10.1164/rccm.201108-1428CI | PMID = 21960536 }}
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| </ref>
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| Causes:
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| *Lung and liver injury.
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| **Lung -> panlobular [[emphysema]].
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| ===Microscopic===
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| Features:
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| *Pink globules in zone 1 (periportal).
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| **Globules ''not'' seen in children.
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| **May ''not'' be present in late stage (cirrhotic).
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| **Best seen on [[PASD stain]].
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| **Can be seen on H&E -- if one looks carefully.
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| Note:
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| *The pink globules may be seen in the context of cirrhosis; cases should be confirmation with IHC.
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| ===Images===
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| <gallery>
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| Image:Alpha-1 antitrypsin deficiency.PAS Diastase.jpg | Alpha-1 AT deficiency - PASD. (WC/JMGardner)
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| </gallery>
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| www:
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| *[http://moon.ouhsc.edu/kfung/jty1/opaq/pathquiz/l1k001-pq01.htm Alpha-1 AT (ouhsc.edu)].
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| *[http://www.pathpedia.com/Education/eAtlas/Histopathology/Liver_and_bile_ducts/Alpha-1_antitrypsin_deficiency.aspx Alpha-1 AT (pathpedia.com)].
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| ===Stains===
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| *PAS +ve.<ref name=pmid6189389>{{Cite journal | last1 = Qizilbash | first1 = A. | last2 = Young-Pong | first2 = O. | title = Alpha 1 antitrypsin liver disease differential diagnosis of PAS-positive, diastase-resistant globules in liver cells. | journal = Am J Clin Pathol | volume = 79 | issue = 6 | pages = 697-702 | month = Jun | year = 1983 | doi = | PMID = 6189389 }}</ref>
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| *PASD +ve.<ref name=pmid6189389/>
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| ===IHC===
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| *A1-AT +ve globules.<Ref name=pmid3512609>{{Cite journal | last1 = Theaker | first1 = JM. | last2 = Fleming | first2 = KA. | title = Alpha-1-antitrypsin and the liver: a routine immunohistological screen. | journal = J Clin Pathol | volume = 39 | issue = 1 | pages = 58-62 | month = Jan | year = 1986 | doi = | PMID = 3512609 }}</ref>
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| =Other= | | =Other= |