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Cystic fibrosis at Split University Hospital Center 1990-2010: clinical characteristics

Objective is to determine the number of children with cystic fibrosis treated during the 1990-2010 period at Split University Hospital Center, and to demonstrate the relationship of disease occurrence, severity of symptoms, survival rates and results of molecular genetic testing. The analysis included 14 children with confirmed diagnosis of cystic fibrosis, all based on the following diagnostic criteria: presence of elevated chloride in sweat, gastrointestinal symptoms with or without pulmonary symptoms, and molecular genetic analysis. Data were obtained by examining medical records from Department of Pediatrics, Split University Hospital Center. Estimation of survival was calculated by Kaplan-Mayer mathematical method. The most commonly reported symptom was chronic bronchitis that appeared either alone or associated with gastrointestinal symptoms. In all affected children, we found elevated concentration of chloride in sweat. Genetic analysis was done in 13 children. Five children had Phe508del mutation (Phe508del/Phe508del) on both alleles, two children had Phe508del mutation (one allele) in association with splice site mutation 3849 +1 G-> in the second allele, and another two children had monoallelic Phe508del mutation. Four children had none of the 36 most commonly diagnosed mutations that occur in the CFTR gene in European population. Average survival of our patients is 132 months (11 years). In comparison with other regions of Europe, cystic fibrosis is not frequently diagnosed either in Dalmatia or in other regions of Croatia. We think that there are many undetected cases with atypical symptoms, as well as incorrect or late diagnoses. Milder forms of disease evade diagnosis as chronic bronchitis, rhinitis, nasal polyps, and sterility in men.

Keywords: CYSTIC FIBROSIS – classification, complications, diagnosis, genetics; EUROPE; CROATIA
Category: Case report
Volume: Vol. 57, No 1, january - march 2013
Authors: V. Bulajić, N. Pavlov, A. Pranić Kragić, R. Despot, J. Pavelić, V. Čulić
Reference work: Paediatr Croat. 2013;57:39-43
DOI:

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