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.
Highlights
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia
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 gene
The majority of liver diseases are associated with a homozygous mutation of the Z allele
Summary
Патофизиологические аспекты поражения печени у детей при недостаточности альфа-1-антитрипсина. Дефицит альфа-1-антитрипсина представляет собой аутосомно-рецессивное заболевание, характеризующееся поражением печени у детей и взрослых, а также заболеванием легких, обусловленным снижением соответствующего содержания белка в сыворотке вследствие мутаций в гене PI (proteinase inhibitor). Классический дефицит альфа-1-антитрипсина представляет собой аутосомно-рецессивное заболевание, характеризующееся поражением печени, а также легких у детей и взрослых, что обусловлено снижением содержания соответствующего белка в сыворотке вследствие мутаций в гене SERPINA1 (serpin peptidase inhibitor, clade A), или PI (proteinase inhibitor), расположенном на хромосоме 14, в регионе 14q32.13.
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