Familial alpha 1 antitrypsin deficiency cases that are diagnosed in adulthood
Küçük Resim Yok
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Univ Catholique Louvain-Ucl
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Alpha 1 antitrypsin (AAT) deficiency, liver transplantation, Genetic Testing
Kaynak
Acta Gastro-Enterologica Belgica
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
79
Sayı
1
