Fibrosis quística, estudio de caso

Abstract

Cystic fibrosis (CF) is an autosomal recessive genetic disorder that affects multiple systems, primarily the respiratory and digestive tracts. Early detection during childhood can significantly improve prognosis and quality of life. In Ecuador, underdiagnosis remains a major challenge, underscoring the importance of documenting local clinical experiences. Objective: To analyze the diagnosis, clinical progression, and comprehensive management of a pediatric patient with cystic fibrosis. Methods: A clinical case study was conducted on a 7-year-old female patient treated at a hospital in Ecuador. Results: The patient presented with recurrent pneumonia, bronchiectasis, chronic constipation, moderate malnutrition, and respiratory and food allergies. The sweat test showed intermediate values, and the diagnosis was confirmed through genetic analysis identifying a pathogenic mutation in the CFTR gene. Management included antibiotic therapy, nutritional support, and family education. The nursing care plan identified priority diagnoses and confirmed the presence of cystic fibrosis. Conclusion: This case demonstrates that early diagnosis and comprehensive management are essential for improving the quality of life of children with CF. The active participation of nursing professionals plays a key role in clinical care and family support, serving as a cornerstone in preventing complications.

Keywords: Cystic fibrosis; Pediatrics; Diagnosis; Nursing care plan; Case study.