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...
保存先:
| 主要な著者: | , , , , , |
|---|---|
| フォーマット: | 図書 |
| 出版事項: |
"Paediatrician" Publishers LLC,
2016-12-01T00:00:00Z.
|
| 主題: | |
| オンライン･アクセス: | Connect to this object online. |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|
| 要約: | 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. |
|---|---|
| 記述事項: | 1682-5527 1682-5535 10.15690/vsp.v15i6.1660 |