Alpha-1-Antitrypsin Deficiency in Children: Case Series
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...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2016-12-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/1701 |
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| author | Svetlana I. Melnik Nikolay N. Vlasov Marina V. Pinevskaya Elena A. Orlova Svetlana V. Starevskaya Irina Y. Melnikova |
| author_facet | Svetlana I. Melnik Nikolay N. Vlasov Marina V. Pinevskaya Elena A. Orlova Svetlana V. Starevskaya Irina Y. Melnikova |
| author_sort | Svetlana I. Melnik |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e0e6a92e8e62411f927dcbfa0dcaaf9c |
| institution | DOAJ |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2016-12-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-e0e6a92e8e62411f927dcbfa0dcaaf9c2025-08-20T03:21:58Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352016-12-0115661962410.15690/vsp.v15i6.16601650Alpha-1-Antitrypsin Deficiency in Children: Case SeriesSvetlana I. Melnik0Nikolay N. Vlasov1Marina V. Pinevskaya2Elena A. Orlova3Svetlana V. Starevskaya4Irina Y. Melnikova5I.I. Mechnikov North-Western State Medical University Rauhfus Children's City Hospital No. 19, SaintSaint-Petersburg State Pediatric Medical UniversityRauhfus Children's City Hospital No. 19, SaintI.I. Mechnikov North-Western State Medical University Rauhfus Children's City Hospital No. 19, SaintI.I. Mechnikov North-Western State Medical University Rauhfus Children's City Hospital No. 19, SaintI.I. Mechnikov North-Western State Medical UniversityAlpha-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.https://vsp.spr-journal.ru/jour/article/view/1701childrenalpha-1 antitrypsin deficiencyemphysemacirrhosis |
| spellingShingle | Svetlana I. Melnik Nikolay N. Vlasov Marina V. Pinevskaya Elena A. Orlova Svetlana V. Starevskaya Irina Y. Melnikova Alpha-1-Antitrypsin Deficiency in Children: Case Series Вопросы современной педиатрии children alpha-1 antitrypsin deficiency emphysema cirrhosis |
| title | Alpha-1-Antitrypsin Deficiency in Children: Case Series |
| title_full | Alpha-1-Antitrypsin Deficiency in Children: Case Series |
| title_fullStr | Alpha-1-Antitrypsin Deficiency in Children: Case Series |
| title_full_unstemmed | Alpha-1-Antitrypsin Deficiency in Children: Case Series |
| title_short | Alpha-1-Antitrypsin Deficiency in Children: Case Series |
| title_sort | alpha 1 antitrypsin deficiency in children case series |
| topic | children alpha-1 antitrypsin deficiency emphysema cirrhosis |
| url | https://vsp.spr-journal.ru/jour/article/view/1701 |
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