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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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