[Delayed diagnosis of alpha-1 antitrypsin deficiency]. / Diagnóstico tardío de déficit de α-1-antitripsina.
An Sist Sanit Navar
; 34(1): 105-8, 2011.
Article
en Es
| MEDLINE
| ID: mdl-21532652
ABSTRACT
Alpha-1 antitrypsin deficiency (AAT-D) is a genetic disease, relatively common in populations of European ancestry. AAT-D remains undiagnosed in many patients, and there are often long delays between the onset of respiratory symptoms and diagnosis. AAT-D can be readily diagnosed by measurement of the serum or plasma protein level, which should be confirmed by assessing the genotype or protein phenotype when AAT levels are below the normal range. Close monitoring for the development or progression of lung disease or liver disease is required, and can improve the prognosis. We show the case of a 69 year old woman with recurrent respiratory infections and asthma symptoms. The serum levels of AAT were below the normal range, and ZZ genotype was confirmed. The delayed diagnosis of our patient seems to emphasize the need to remind the doctors about AAT-D, frequently associated with asthma or COPD symptoms.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Deficiencia de alfa 1-Antitripsina
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Aged
/
Female
/
Humans
Idioma:
Es
Revista:
An Sist Sanit Navar
Asunto de la revista:
SAUDE PUBLICA
Año:
2011
Tipo del documento:
Article
País de afiliación:
España