Young adult with liver cirrhosis, portal vein thrombosis, a reported case of α-1anti-trypsin deficiency.
Seif, S., Ezzel Arab, M., .Hassanein, M., El Kassas, M., Wadie, S., Zalata, K., El Gazzar, H., Hassany, M., Abdel Baki, A. (2018). Young adult with liver cirrhosis, portal vein thrombosis, a reported case of α-1anti-trypsin deficiency.. EKB Journal Management System, 39(1), 218-222. doi: 10.21608/ejhm.2018.16965
Sameh Seif; Mohamed A. Ezzel Arab; Mohammad A .Hassanein; Mohamed El Kassas; Selim Wadie; Khalid Zalata; Helmy El Gazzar; Mohamed Hassany; Amin Abdel Baki. "Young adult with liver cirrhosis, portal vein thrombosis, a reported case of α-1anti-trypsin deficiency.". EKB Journal Management System, 39, 1, 2018, 218-222. doi: 10.21608/ejhm.2018.16965
Seif, S., Ezzel Arab, M., .Hassanein, M., El Kassas, M., Wadie, S., Zalata, K., El Gazzar, H., Hassany, M., Abdel Baki, A. (2018). 'Young adult with liver cirrhosis, portal vein thrombosis, a reported case of α-1anti-trypsin deficiency.', EKB Journal Management System, 39(1), pp. 218-222. doi: 10.21608/ejhm.2018.16965
Seif, S., Ezzel Arab, M., .Hassanein, M., El Kassas, M., Wadie, S., Zalata, K., El Gazzar, H., Hassany, M., Abdel Baki, A. Young adult with liver cirrhosis, portal vein thrombosis, a reported case of α-1anti-trypsin deficiency.. EKB Journal Management System, 2018; 39(1): 218-222. doi: 10.21608/ejhm.2018.16965

Young adult with liver cirrhosis, portal vein thrombosis, a reported case of α-1anti-trypsin deficiency.

The Egyptian Journal of Hospital Medicine
Article 8, Volume 39, Issue 1, April 2018, Page 218-222  XML PDF (937.91 K)
Document Type: Original Article
DOI: 10.21608/ejhm.2018.16965
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Authors
Sameh Seif1; Mohamed A. Ezzel Arab2; Mohammad A .Hassanein1; Mohamed El Kassas1; Selim Wadie3; Khalid Zalata4; Helmy El Gazzar5; Mohamed Hassany1; Amin Abdel Baki1
1Tropical Medicine Department National Hepatology and Tropical Medicine Research Institute (NHTMRI), Cairo, Egypt.
2Internal Medicine Department, National Hepatology and Tropical Medicine Research Institute, Cairo, Egypt.
3Radiology Department, National Hepatology And Tropical Medicine Research Institute, Cairo, Egypt.
4Pathology Department, Faculty of Medicine, Mansoura University, Egypt
5Clinical Pathology Department, Hearing and Speech Institute, Egypt
Abstract
Alpha-1antitrypsinisaproteinwith inhibitorycapabilityovertheproteolytic enzymeelastase.Sinceitsfirstdescription in1963,over100differenta1ATalleles havebeendescribed(FolchE.,etal, 2007).Themajorclinicalmanifestationsof a1ATdeficiencyrelatetothefunctionofa 1ATandwhereitismade.A1ATserves asaninhibitorofneutrophilelastase(NE), apowerful,destructiveproteolyticenzyme storedinneutrophils(CarrellR.W,etal., 1982)(JanoffA,.1985).Theliveristhe majorsiteofa1ATgeneexpression, releasing2gofa1ATintothecirculation daily.A1ATdiffusesintomostorgans, whereitprotectsextracellularstructures fromattackbyNEreleasedbyactivatedor disintegratingneutrophils.Thelower respiratorytractisparticularlyvulnerableto deficiencyofa1AT,whichnormally represents>90%oftheanti-NEprotective screenofthealveolarwalls(GadekJ.E.,et al.,1981)(Wewers,M.D.,etal.,1987) .WhenserumaIATlevelsare<11um, thereisinsufficientaIATtoprotectthe lowerrespiratorytractfromitsburdenof NE,permittingprogressivedestructionof thealveoli,whichculminatesin emphysema(Wewers,M.D.,etal.,1987). Thepathogenesisoftheliverdiseaseisless wellunderstood,butrelatestothefactthat hepatocytesarethemajorsiteofalAT synthesis,andthatcertainmutationsofthe


a1ATgenecausederangementsinthe intracellularprocessingofaIAT, culminatinginhepatocyteinjury (ErricksonS.,1986).Themostsevereform ofdeficiencyisthehomozygousexpression oftheZalleleorPI*ZZ,whenthis expressionoccurs,itaccountsfor95%of casesofseverea1ATdeficiency.The threeorgansmostcommonlyaffectedbya 1ATarethelungs,liverandskin.a1AT deficiencyisthemostfrequently recognizedgeneticriskfactorforchronic obstructivepulmonarydisease(COPD). Eventhoughitremainsunderdiagnosed,its importancecontinuestogrowinthefieldof solidorgantransplantation,accountingfor 8-9%ofalllungtransplants.A1ATisthe mostcommonmetabolicliverdisease requiringlivertransplantationinchildren.
Thepresenceofcirrhosisinalpha-1- antitrypsindeficiencyislow,approximately 2.2/100,000forZZhomozygotes.The male-to-femaleratiowas2to1.Inone- thirdofthepatientsalcoholcouldhave beenaco-adjuvantoraggravatingfactorin theliverdisease(FolchE.,etal,2007).
Wedescribeauniquecaseofa27year-old manwitha1AT,presentedwithliver cirrhosisportalveinthrombosis&multiple bonydeformities.



 
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