Familial alpha 1 antitrypsin deficiency cases that are diagnosed in adulthood.

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Atayan Y., Çağın Y. F., Erdoğan M. A., Aladağ M.

ACTA GASTRO-ENTEROLOGICA BELGICA (English ed.), sa.79, ss.52-54, 2016 (SCI-Expanded)

• Yayın Türü: Makale / Vaka Takdimi
• Basım Tarihi: 2016
• Dergi Adı: ACTA GASTRO-ENTEROLOGICA BELGICA (English ed.)
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
• Sayfa Sayıları: ss.52-54
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• İnönü Üniversitesi Adresli: Evet

Özet

Abstract

Alpha 1 antitrypsin (AAT) deficiency is a hereditary disorder

leading to severe lung and liver diseases worldwide. An accumulation

of insoluble heterodimer AAT molecules in hepatocytes is the

main cause of liver disorders. The most commonly detected allele

worldwide is the PIMM allele, which fulfills the AAT function. The

most common missing variant is PiZZ. Serum AAT level is a beneficial

but not a reliable determinant for diagnosis. Liver biopsy

yields more reliable results. AAT deficiency has no specific treatment.

The only treatment modality in children with end stage liver

disease is the hepatic transplant. We wanted to present in our article

four cases from same family, diagnosed alpha-1 antitrypsindeficiency

in adulthood. (Acta gastroenterol.

belg., 2016, 79, 54-57).

Key words : Alpha 1 antitrypsin (AAT) deficiency, liver transplantation,

and Genetic Testing.