Alpha-1-Antitrypsin Deficiency in Children: Case Series
Svetlana I. Melnik,
Nikolay N. Vlasov,
Marina V. Pinevskaya,
Elena A. Orlova,
Svetlana V. Starevskaya,
Irina Y. Melnikova https://doi.org/10.15690/vsp.v15i6.1660
Abstract
Alpha-1-antitrypsin deficiency (A1AT) is a cause of an orphan disease, cases of which are well described in adult patients, but as for children, they are described only in a few publications, and in most of them the description is limited to liver lesions. This article presents the results from the observation of 5 children with alpha-1-antitrypsin deficiency, including 3 boys (Z-allele homozygotes) and 2 girls (PiMZ-phenotype carriers). It is shown that in patients with A1AT deficiency the onset of the destruction of lung tissue was at the age of 2 with the signs of recurrent bronchial obstruction and at the age of 7 in the form of emphysema. Raising awareness among practicing physicians of various specialties will improve diagnostics of this form of disease and its comorbid conditions.
About the Authors
Svetlana I. Melnik
I.I. Mechnikov North-Western State Medical University
Rauhfus Children's City Hospital No. 19, Saint
Russian Federation
Saint-Petersburg, Russian Federation
Russian Federation
Saint-Petersburg, Russian Federation
Nikolay N. Vlasov
Saint-Petersburg State Pediatric Medical University
Russian Federation
Saint-Petersburg, Russian Federation
Russian Federation
Saint-Petersburg, Russian Federation
Marina V. Pinevskaya
Rauhfus Children's City Hospital No. 19, Saint
Russian Federation
Saint-Petersburg, Russian Federation
Russian Federation
Saint-Petersburg, Russian Federation
Elena A. Orlova
I.I. Mechnikov North-Western State Medical University
Rauhfus Children's City Hospital No. 19, Saint
Russian Federation
Saint-Petersburg, Russian Federation
Russian Federation
Saint-Petersburg, Russian Federation
Svetlana V. Starevskaya
I.I. Mechnikov North-Western State Medical University
Rauhfus Children's City Hospital No. 19, Saint
Russian Federation
Saint-Petersburg, Russian Federation
Russian Federation
Saint-Petersburg, Russian Federation
Irina Y. Melnikova
I.I. Mechnikov North-Western State Medical University
Russian Federation
Saint-Petersburg, Russian Federation
Russian Federation
Saint-Petersburg, Russian Federation
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Review
For citations:
Melnik S.I., Vlasov N.N., Pinevskaya M.V., Orlova E.A., Starevskaya S.V., Melnikova I.Y. Alpha-1-Antitrypsin Deficiency in Children: Case Series. Current Pediatrics. 2016;15(6):619-624. (In Russ.) https://doi.org/10.15690/vsp.v15i6.1660
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