Characterization of patients with Cystic Fibrosis diagnosed through sweat chloride test

Abstract

Background and Objective: Cystic Fibrosis is a genetic disease of autosomal recessive inheritance characterized by dysfunctional secretion of the exocrine glands. In Honduras there are no reviews of this topic, so this study was conducted to characterize patients diagnosed with cystic fibrosis through sweat chloride test.

Patient and Methods: This is a descriptive study with a quantitative approach. Clinical records were reviewed and an instrument of 20 questions was applied to patients from January 2010-June 2015.

Results: five patients diagnosed with cystic fibrosis are presented. The age at diagnosis ranged from newborn to 5 years; 2 of them with a family history of the disease. At the onset of the disease 3 had respiratory and digestive symptoms. In relation to height / age at diagnosis 4 were found below the Z -3 score. All cultures reported Pseudomonas aeruginosa. Regarding the therapeutic management of patients, all of them were nebulized with 7% hypertonic saline, beta -2-agonists, systemic antibiotics, and enzymes and fat-soluble vitamin supplementation were indicated. 2 patients out of 3 (67%) had mutations detected in the CFTR gene _F 508.

Conclusions: Cystic Fibrosis is a disease still largely unknown. Neonatal screening should be implemented to help the early diagnosis and sweat chloride test in older patients with high clinical suspicion of the disease.

Acta Pediátrica Hondureña, Vol. 6, No. 2 /octubre 2015 a marzo 2016: 486-492