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Alpha 1 antitrypsindeficiency

Y Atayan, Y F Çağın, M A Erdoğan, R Bestas, M Aladag
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...
March 2016: Acta Gastro-enterologica Belgica
W Menzel, H Moll
Diagnostic problems in alpha 1-antitrypsin deficiency are shown by a case report about a seven weeks old infant. The typical morphological changes in a liver biopsy were suspicious for alpha 1-antitrypsindeficiency. This diagnosis was eventually established by repetition of serum electrophoresis and quantitative dterminations. In addition to prognosis, problems of therapy, prophylaxis, early diagnosis and counselling of affected families are discussed.
April 1980: Monatsschrift Für Kinderheilkunde
B Piłacik, W Hanke
No abstract text is available yet for this article.
September 17, 1990: Polski Tygodnik Lekarski
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