Akif ALTINBAŞ, Fuat EKİZ, Şahin ÇOBAN, Osman YÜKSEL

Alfa 1 antitripsin eksikliği

Alfa 1 antitripsin eksikliği, ciddi akciğer ve karaciğer hastalıklarına neden olabilen ve tüm dünya genelinde farklı oranlarda görülen genetik bir rahatsızlıktır. AAT eksikliği, neden olduğu nötrofil elastaza karşı yetersiz savunma sistemi ile akciğer hastalıklarına yol açarken, heterodimer AAT moleküllerinin hepatositte birikimiyle de karaciğer hastalıklarına yol açmaktadır. Halk sağlığı politikalarının oluşturulması amacıyla her toplumdaki AAT eksikliği sıklığının tespiti önemlidir. Genotipik olarak AAT, normal allel (PİMM), taşıyıcı (PİMS, PİMZ) ve eksik allel (PİSS, PİSZ, PİZZ) olarak üç grupta incelenmektedir. AAT eksikliğinin tespiti amacıyla sadece serum AAT düzeyinin ölçülmesi yetersiz kalmaktadır. Ülkemizde yapılan çalışmada, PI MZ allel sıklığı %0,7 olarak tespit edilmiş ve serum AAT düzeyi için kabul edilen 100,5 mg/dllik eşik değer ile en yüksek sensitif ve spesifik değere ulaşılmıştır. Bu derleme yazısının amacı, ülkemizde yapılan çalışmalar ışığında AAT eksikliğinin ülkemiz için bir sorun teşkil edip etmediğini ortaya koymaktır.

Alpha 1 antitrypsin deficiency

Alpha 1 antitrypsin (AAT) deficiency is a hereditary disorder leading to severe lung and liver diseases worldwide. In AAT deficiency, the defective defence system against neutrophil elastasis is implicated in lung disorders, whereas an accumulation of insoluble heterodimer AAT molecules in hepatocytes is the main cause of liver disorders. It is important to detect the prevalence of AAT deficiency in each country to organize the public health policy. Genotypic AAT molecule is defined as normal allele (PİMM), carrier (PİMS, PİMZ) and deficient allele (PİSS, PİSZ, PİZZ). Only to measure the level of AAT in serum does not help to detect all AAT deficiency. A recent study performed in our country revealed that 0.7% of healthy individials represent PI MZ allele and the most sensitive and spesific cuttoff value for AAT level in serum is 100.5 mg/dl. The aim of this review article is to determine importance of AAT deficieny in our country according to the data published from our country.

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