Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia

BMC Pulmonary Medicine

Research

Angela Giraldo¹  Ricardo Mosquera²  Carlos Aguirre-Franco³  Alejandro Casas-Herrera³  Mauricio Gonzalez-García³  Abraham Alí-Munive³  Diana Cano⁴  Claudia Diaz-Bossa⁵  Hector Paul⁶  John Pedrozo-Pupo⁷  José Luis López-Campos⁸  Nadia Juliana Proaños⁹  Prada Leidy⁹ 

[1] CardioSalud Eje Cafetero SAS, Cra. 13 # 3B ? 12, Pereira, Colombia;Clínica Neumológica del Pacífico S.A.S. Calle 5 A No. 42A – 18. Cali, Valle, Barranquilla, Colombia;Fundación Neumológica Colombiana, Cra. 13 B # 161 – 85, Bogota, Colombia;Instituto Neumologico del Oriente S.A. Calle, 53 No. 31 – 30. Bucaramanga, Santander, Spain;Neumomed SAS, Calle 19 A No. 44 ? 25, Medellin, Antioquia, Colombia;Promotores de la salud de la costa S.A.S. Cra 54 No 54 ? 01, Barranquilla, Colombia;Respire Instituto para el Cuidado Respiratorio (Previcare Ltda), Cra 21 # 18 – 27., Santa Marta, Colombia;Unidad Médico-Quirúrgica de Enfermedades Respiratorias, Hospital Universitario Virgen del Rocío, Avda de Manuel Siurot s/n, 41013, Sevilla, España;Universidad de La Sabana, Campus del puente del común, Km 7 Autopista Norte de Bogotá, Chía, Chía- Cundinamarca, Colombia;

关键词: COPD;    Pulmonary emphysema;    alpha-1 antitrypsin deficiency;    Genetic mutation;    Genotyping test;   

DOI  :  10.1186/s12890-023-02453-0

 received in 2023-02-14, accepted in 2023-04-26,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundAlpha-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.Main objectiveTo 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.MethodsThis 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.Main findingsWe 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).ConclusionsGenetic 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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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