Malambo-García Dacia, Gómez-Alegría Claudio, Baena-Del Valle Javier, Ruiz-Díaz Maria, Cano-Pérez Eder, Gómez-Camargo Doris
Grupo de Investigación UNIMOL, Facultad de Medicina, Universidad de Cartagena, Cartagena de Indias, Colombia.
Doctorado en Medicina Tropical, Facultad de Medicina, Universidad de Cartagena, Cartagena de Indias, Colombia.
Heliyon. 2023 Jun 5;9(6):e17005. doi: 10.1016/j.heliyon.2023.e17005. eCollection 2023 Jun.
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.
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.
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/m, respectively. The clinical manifestations that occurred more frequently were steatorrhea (65.4%) and recurrent pneumonia (46.2%). Chronic airway infection with was identified in 71.4% of the cases and the p.F508del mutation was found in 47.2% of the subjects.
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.
囊性纤维化（CF）是一种严重的常染色体隐性疾病。早期诊断、合并症预防和控制是实现高质量生活及提高预期寿命的基石。在哥伦比亚加勒比地区，那里是一个基因混合的人群，CF是一种影响儿童和成人的罕见病，仍是一个需要谨慎处理的具有挑战性的问题。这项工作描述了来自哥伦比亚印度卡塔赫纳的CF患者的基因、临床和辅助临床特征。
36名患者纳入研究。通过CF患者区域项目识别并评估这些受试者。分析CFTR基因突变、人体测量参数、微生物感染和肺功能。报告人口统计学参数、药物治疗和合并症的数据。确定分类变量的频率和百分比以及定量变量的均值或中位数。此外，按性别进行比较。
患者的平均年龄为11.9±5.3岁，诊断时的中位年龄为14个月。女性占55.5%，男性占44.5%。体重、身高和体重指数的均值分别为35±17.6千克、139.9±28厘米和16.5±2.9千克/米。最常出现的临床表现是脂肪泻（65.4%）和反复肺炎（46.2%）。71.4%的病例中发现慢性气道感染，47.2%的受试者中发现p.F508del突变。
来自哥伦比亚加勒比地区的CF患者目前的特征显示出一些令人担忧的特征，如营养状况；然而，早期诊断和临床随访方面的进展有助于改善患者的总体状况。有必要继续努力提高患者的预期寿命和生活质量。
