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• W3009587530 endingPage "21" @default.
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• W3009587530 abstract "Alpha-1-antitrypsin deficiency is an autosomal recessive disease characterized by both liver damage and lung disease in children and adults because of a decrease in the serum protein content due to the mutations in the PI (proteinase inhibitor) gene. The majority of liver diseases are associated with a homozygous mutation of the Z allele. There are many variations of clinical manifestations of the liver disease in children with the PI*ZZ genotype. In the neonatal period, liver disease is usually cholestatic; and it is accompanied by a prolonged cholestatic jaundice, skin itching, which can be determined only later (after 6 months), decreased appetite and bad weight gain, hepato- and splenomegaly. The article describes the pathophysiology of liver damage in children with alpha-1-antitrypsin deficiency. The authors provide their recommendations for the management of children with suspected and confirmed alpha-1-antitrypsin deficiency." @default.
• W3009587530 created "2020-03-13" @default.
• W3009587530 creator A5019507949 @default.
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• W3009587530 date "2020-03-06" @default.
• W3009587530 modified "2023-09-25" @default.
• W3009587530 title "Pathophysiological aspects of liver damage in children with alpha-1-antitrypsin deficiency" @default.
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• W3009587530 doi "https://doi.org/10.21508/1027-4065-2020-65-1-11-21" @default.
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