Alpha-1-Antitrypsin Deficiency in Children: Case Series

Ивановна, Мельник Светлана; Власов, Н. Н.; Пиневская, М. В.; Orlova, E. A.; Starevskaya, S.V.; Мельникова, И. Ю.

doi:10.15690/vsp.v15i6.1660

Cited by 1 publication

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“…Usually the persistence of bright clinical signs of defeat of the respiratory system at AATD in children is not observed as it is characteristic of adult population. Children with AATD are diagnosed and mainly associated with the development of liver disease [8,9]. However, recurrent respiratory manifestations in a child with AATD may be a trigger for disease progression.…”

Section: Introductionmentioning

confidence: 99%

Genetic testing of allelic variants of PIZ (GLU342Lys, RS28929474) and PIS (GLU264Val, RS17580) of SERPINA1 gene in children with bronchial asthma

et al. 2022

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According to world publications, mutations in the SERPINA1 gene may be a genetic risk factor for severe chronic obstructive pulmonary disease and, consequently, rapid progression of respiratory dysfunction. This disease leads to a decrease in the level of alpha-1-antitrypsin protein. It is inherited by autosomal recessive type, but there are registered cases of codominance. In the absence of treatment, diseases of the respiratory system become chronic and lead to disability in adulthood. Early diagnosis of AAT deficiency is important to prevent complications and reduce mortality among people with this pathology. Due to these factors, genetic testing of SERPINA1 gene mutations in children with chronic lung diseases is appropriate to detect and prevent severe complications, associated with AATD. The aim of this work is to improve the effectiveness of early diagnosis of AAT deficiency in children with bronchial asthma and recurrent obstructive bronchitis by identifying different genotypes and phenotypes of A1AT deficiency, studying their relationship with the clinical course of respiratory diseases in children

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Section: Introductionmentioning

confidence: 99%