Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia.
BMC Pulm Med
; 23(1): 156, 2023 May 04.
Article
en En
| MEDLINE
| ID: mdl-37143026
ABSTRACT
BACKGROUND:
Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder associated mainly with pulmonary emphysema and Chronic Obstructive Pulmonary Disease (COPD). All individuals with COPD regardless of age or ethnicity should be tested for AATD, but in Colombia its prevalence in unknown. MAINOBJECTIVE:
To determine the prevalence of the genetic mutations, present in AATD in adult patients with COPD in Colombia, using a genotyping test on cells from the oral mucosa.METHODS:
This was a multicentre, observational, cross-sectional study which included adult patients attending seven COPD care centres in Colombia. Demographic data, medical history, including history of exposure to smoking and biomass smoke, most recent spirometry, pharmacological and non-pharmacological treatment received, serum AAT levels, and mutations detected by the genotyping test were recorded for all the recruited patients. For the comparison of variables between the groups with and without mutation, we used the X2 test for the qualitative variables and the Student's t-test or Mann-Whitney U test according to their distribution. MAINFINDINGS:
We collected a sample of 1,107 patients, the median age was 73.8 years (87.6-79.9). Mutations were documented in 144 patients (13.01%), the majority had the M/S mutation (78.50%), followed by M/Z (9.72%). One patient had a ZZ mutation and two patients had null alleles. In total, 23 patients had mutations associated with serum AAT deficiency (levels below 60 mg/dl).CONCLUSIONS:
Genetic mutations were documented in 13.01% of patients with COPD in Colombia and 2.07% were AATD-related, showing that there is a significant number of underdiagnosed patients.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Deficiencia de alfa 1-Antitripsina
/
Enfermedad Pulmonar Obstructiva Crónica
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prevalence_studies
/
Qualitative_research
/
Risk_factors_studies
Límite:
Aged
/
Aged80
/
Humans
País/Región como asunto:
America do sul
/
Colombia
Idioma:
En
Revista:
BMC Pulm Med
Año:
2023
Tipo del documento:
Article
País de afiliación:
Colombia