Ciddi kanamayla tanı alan alfa 1 antitripsin eksikliği olan bir olgu Olgu Sunumu

Abstract

Alpha 1 antitrypsin deficiency is an autosomal recessive disease in nbsp; which liver disease results from retention of abnormal alpha 1 antitrypsin in the endoplasmic reticulum of hepatocytes In childhood alpha 1 antitrypsin deficiency nbsp; may present as cholestasis late hemorrhagic disease of infancy or chronic liver disease Here we present a case with alpha 1 antitrypsin deficiency who developed cholestasis and late hemorrahagic disease of infancy We emphasize that the nbsp; cause of late hemorrhagic disease of infancy may be unrecognized neonatal cholestasis and that all infants who have jaundice for more than 15 days should be evaluated for neonatal cholestasis Unrecognized neonatal cholestasis can nbsp; result nbsp; in severe conditions nbsp; such as intracranial bleeding therefore early diagnosis and treatment nbsp; are essential Key words: Alpha 1 antitrypsin deficiency cholestasis late hemorrhagic disease