Clinical, paraclinical, and genetic profile of patients with cystic fibrosis from Colombian Caribbean

Dacia Malambo-García; Claudio Gómez-Alegría; Javier Baena-Del Valle; Maria Ruiz-Díaz; Eder Cano-Pérez; Doris Gómez-Camargo

doi:10.1016/j.heliyon.2023.e17005

Clinical, paraclinical, and genetic profile of patients with cystic fibrosis from Colombian Caribbean

Heliyon. 2023 Jun 5;9(6):e17005. doi: 10.1016/j.heliyon.2023.e17005. eCollection 2023 Jun.

Authors

Dacia Malambo-García^{1

2}, Claudio Gómez-Alegría³, Javier Baena-Del Valle^{1

4}, Maria Ruiz-Díaz^{1

2}, Eder Cano-Pérez¹, Doris Gómez-Camargo^{1

2}

Affiliations

¹ Grupo de Investigación UNIMOL, Facultad de Medicina, Universidad de Cartagena, Cartagena de Indias, Colombia.
² Doctorado en Medicina Tropical, Facultad de Medicina, Universidad de Cartagena, Cartagena de Indias, Colombia.
³ Grupo de Investigación UNIMOL, Facultad de Ciencias, Departamento de Farmacia, Universidad Nacional de Colombia, Bogotá, Colombia.
⁴ Departamento de Patología y Laboratorio de Medicina, Fundación Santa Fe de Bogotá, Hospital Universitario, Bogotá, Colombia.

Abstract

Background: Cystic fibrosis (CF) is a serious autosomal recessive disorder. Early diagnosis, comorbidity prevention, and control are cornerstones for a quality life and for improving life expectancy. In Colombian Caribbean, where there is a genetically admixed population, CF is an orphan disease affecting children and adults, and it remains a challenging issue to be addressed carefully. This work describes the genetic, clinical, and paraclinical profiles of CF patients from Cartagena de Indias, Colombia.

Methods: Thirty-six patients were included in the study. The subjects were identified and evaluated through the Regional Program for CF patients. CFTR gene mutations, anthropometric parameters, microbiological infections, and pulmonary function were analyzed. Data on demographic parameters, pharmacological treatments, and comorbidities were reported. Frequency and percentages were established for the categorical variables and mean or median for the quantitative variables. In addition, comparisons were made by sex.

Results: The average age of the patients was 11.9 ± 5.3 years and the median age at diagnosis was 14 months. 55.5% were women and 44.5% were men. The mean values for weight, height, and body mass index were 35 ± 17.6 kg, 139.9 ± 28 cm, and 16.5 ± 2.9 kg/m², respectively. The clinical manifestations that occurred more frequently were steatorrhea (65.4%) and recurrent pneumonia (46.2%). Chronic airway infection with Pseudomonas aeruginosa was identified in 71.4% of the cases and the p.F508del mutation was found in 47.2% of the subjects.

Conclusion: The current profile of CF patients from the Colombian Caribbean showed some concerning features, such as nutritional status; however, progress in early diagnosis and clinical follow-up could contribute to improve the general conditions of patients. It is necessary to continue efforts to increase the life expectancy and quality of life of the patients.

Keywords: CFTR protein; Caribbean region; Colombia; Cystic fibrosis; Mutations; Pseudomonas aeruginosa.