Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador

Abstract

Background: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed cystic fibrosis (CF) attending the Carlos Andrade Marín Hospital (HCAM) within the study period. Methods: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of CF disease who attended HCAM, one of the largest tertiary-level hospitals in Ecuador, between 2017 and 2018 was performed. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. Results: Forty seven patients with CF were included in the study. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV 1 /FVC) changed significantly after nine months post-diagnosis (85.55 ± 13.26; p < 0.05). The most common pathogenic genetic variants were F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13); g.204099A > C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each. Conclusions: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF's patients in Ecuador. Within the cohort of patients, an important and unique genetic feature was characterized by the presence of the g.204099A > C and the c.206359C > A homozygous polymorphism as well as the presence of the H609R variant, a mutation only reported among Ecuadorians.

La fibrosis quística en niños en el Ecuador

“…Un análisis desarrollado en el año 2007 determina por primera vez la incidencia en el país en 1 por 11 252 nacidos vivos 10 . Existen otros estudios donde se analiza el diagnóstico, análisis microbiológico y genético 11 , perfil epidemiológico -clínico de pacientes con fibrosis quística 12 , identificar variantes del gen CFTR en pacientes con diagnóstico de Fibrosis Quística 13 . Actualmente se tiene información de que en el…”

Prognosis and treatment of 46 Chinese pediatric cystic fibrosis patients

“…As compared to results of previous studies demonstrating diagnostic delays of 5.7 [15] and 8.7 years [5], here we found a 4.01-year diagnostic delay as evidence that underdiagnosis of CF patients still occurs in China. This issue is likely due to the lack of universal screening, whereby late diagnoses or misdiagnoses delay treatment initiation and delivery that can adversely impact patient prognosis [16]. In one study of patients with delayed diagnoses, health of CF patients at time of diagnosis was significantly poorer than health of other patient groups due to their greater number of respiratory (P < .0001), gastrointestinal (P = .005) and failure-tothrive manifestations (P < .0001), with adverse effects on CF patient growth and respiratory function outcomes observed (FEV1% and P. aeruginosa colonization) [17].…”

Initial characteristics of cystic fibrosis in Algeria: Description of 34 pediatric cases

“…Despite advances in medicine, it remains a life‐shortening disease with a median predicted survival age of approximately 65 years in 2021 in the United States 3 . Not only It affects around 70,000 patients around the world, but also nearly 1000 new cases of CF are diagnosed every year 4–8 . Additionally, nutrition and lung function are important predictors of CF morbidity and mortality 9,10 …”

“…3 Not only It affects around 70,000 patients around the world, but also nearly 1000 new cases of CF are diagnosed every year. [4][5][6][7][8] Additionally, nutrition and lung function are important predictors of CF morbidity and mortality. 9,10 In most cases, socioeconomic factors like poverty, limited access to appropriate health care, and CF medications are more prevalent in lower-middle-income countries.…”