Abstract

FUENTES FERNANDEZ, Gladys et al. Characterization of cystic fibrosis in the first year of life. Rev Cubana Pediatr [online]. 2014, vol.86, n.4, pp.423-432. ISSN 0034-7531.

Introduction: cystic fibrosis is a lethal multystemic and genetic disease causing early progressive pulmonary damage in typical cases. Objective: to characterize the diagnosis of cystic fibrosis in children under one year of age. Methods: descriptive cross-sectional study of patients diagnosed with cystic fibrosis in their first year of life, based on clinical suspicions, in the 1993-2013 period at Centro Habana hospital. To this end, data from clinical records were used. Results: of the total number of 44 patients diagnosed with the disease in the period, 35 were classified as having typical pulmonary disease of whom 13 were diagnosed in their first year of life, 7 of 21 (33.3 %) detected in the 1993-2003 period and 6 of 14 (42.8 %) diagnosed from 2004 through 2013. When the non-typical clinical forms of disease are added, then the total amount of children diagnosed in their first year of life amounts to 16 with average age at diagnosis of 4.9 months; 11 children (68.8 %) were diagnosed before 6 months of age and males prevailed (10 for 62.5 %). Malnutrition was present in 62.5 % of the group. The typical form with pancreatic failure was observed in 75 % of under one year-old children whereas Pseudomona aeruginosa was isolated in 68.8 % of patients. Respiratory symptoms such as polypnea and hyperinsuflated thorax predominated (15 children for 93,8 %) and retraction (14 children for 87.5 %) whereas abdominal distension (11 for 68.8 %) and steatorrhea (10 for 62.5 %) were the most common digestive disturbances. Chest X-ray showed some alteration in all these children. Conclusions: the medical staff should be highly suspicious of these cases from the clinical viewpoint in order to early diagnose the typical forms of cystic fibrosis.

Keywords : cystic fibrosis; neonatal screening; early diagnosis.

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