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Summary The primary role of alpha-1-antitrypsin (AAT), encoded by the highly polymorphic SERPINA1 gene, is to protect the lung parenchyma from proteolysis by neutrophil elastase. AAT deficiency (AATD) is an autosomal recessive disease, considered as the most important genetic cause of liver disease in children and emphysema in adults. According to frequency, deficient alleles can be classified as »common« (Z and S) and »rare« (Mmalton, Mheerlen, Mprocida etc). Type, intensity and onset of clinical disease associated with AATD occur as a result of interaction between AATD and additional genetic and acquired factors (tobacco smoking, air pollution exposure etc). The most frequent clinical manifestations include premature emphysema, chronic hepatitis, cirrhosis and hepatocellular carcinoma. Epidemiological studies highlight the need for improvement in diagnostic efficiency for AATD. It is recommended for a diagnostic approach to integrate precise, internationally recognized clinical criteria and a standardized laboratory protocol, based on a combination of biochemical and molecular methods. The predilection site of cli nical manifestations guides the therapeutic approach. Augmen tation therapy is possible in lung disease, while currently the only specific measure in patients with severe liver failure due to AATD is transplantation. In all patients, preventive measures, ammeliorating the deleterious effects of habits and environmental factors are recommended. Introduction of gene therapy is expected to additionally improve health outcomes in affected persons. Current results with an integrative AATD diagnostic strategy in the Serbian population are highly encouraging, prompting towards its further implementation in common medical practice with the ultimate goal to establish a national register of affected individuals. Kratak sadržaj Primarna uloga alfa-1-antitripsina (AAT) jeste da zaštiti plućni parenhim od proteolize dejstvom neutrofilne elastaze. Nje govu biosintezu kontroliše izuzetno polimorfni gen SERPINA1. Deficijencija AAT (AATD) jeste autozomalno recesivno oboljenje i smatra se najčešćim genetskim uzrokom obolje nja jetre kod dece i emfizema kod odraslih. Prema učesta losti, deficijentni aleli se mogu podeliti na »česte« (Z i S) i »retke« (Mmalton, Mheerlen, Mprocida itd.). Za vrstu, intenzitet i vremenski period u kome se razvijaju kliničke manifestacije smatra se odgovornim interakcija AATD i dodatnih genetskih i stečenih faktora rizika (pušenje, izlo ženost aero zagađenju i sl.). Kod obolelih se najčešće javljaju preuranjen emfizem, hronični hepatitis, ciroza i hepatocelularni karcinom. Epidemiološke studije naglašavaju potrebu povećanja dijagnostičke efikasnosti kod AATD. Preporučuje se da dijagnostički pristup integriše precizne, međunarodno identifikovane, kliničke kriterijume i standardizovan laboratorijski protokol, zasnovan na biohemijskim i molekularno-biološkim metoda ma. Terapijski pristup zavisi od vrste kliničkih manifestacija. Kod pulmoloških bolesnika je moguće primeniti te rapiju na doknade, dok kod osoba sa terminalnom fa zom oštećenja jetre uzrokovanog AATD transplantacija trenut no predstavlja jedinu specifičnu terapiju. Kod svih obolelih je neophodno preventivno uticati na sma njenje štetnog uticaja životnih navika i faktora sredine. Očekuje se da zdravstveni ishodi kod obolelih budu značajno unapređeni uvođenjem genske terapije. Dosadašnji rezultati istraživanja efikasnosti integrativnog pristupa detekciji AATD u populaciji Srbije su ohrabrujući i upućuju na potrebu njegovog omasovljenja, čime bi se ostvarili uslovi za formiranje nacionalnog registra obolelih.

journal of medical biochemistry

Alpha-1-Antitrypsin Deficiency – Molecular Basis, Clinical Presentation, Therapeutic Options and an Integrative Approach in Diagnostics / DEFICIJENCIJA ALFA-1-ANTITRIPSINA – MOLEKULSKE OSNOVE, KLINIČKE MANIFESTACIJE, TERAPIJSKE MOGUĆNOSTI I INTEGRATIVNI PRISTUP U DIJAGNOSTICI