Alpha-1-antitrypsin deficiency (Q40158): Difference between revisions
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A deficiência de alfa-1-antitripsina (DAAT) é uma doença genética que se manifesta com enfisema pulmonar, cirrose hepática e, raramente, com doença de pele tipo paniculite, e é caracterizada por baixos níveis séricos de AAT, o principal inibidor sérico da protease em humanos. | |||
| description / en | description / en | ||
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterised by low serum levels of AAT, the main protease inhibitor (PI) in human serum. | |||
Revision as of 05:51, 13 August 2026
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterised by low serum levels of AAT, the main protease inhibitor (PI) in human serum.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C5A |
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| English | Alpha-1-antitrypsin deficiency |
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterised by low serum levels of AAT, the main protease inhibitor (PI) in human serum. |
