Abstract
Objective: This study was performed to examine the demographic characteristics, clinical features and diagnostic tests of children with the diagnosis of cystic fibrosis. Material and Methods: Presenting symptoms, complaints on admission, clinical features, and diagnostic tests for 41 children with cystic fibrosis between the age of 2 days and 4 months diagnosed at the Pediatrics clinic of Dr. Sami Ulus Maternity, Children Health and Diseases Training and Research Hospital between January 2005 and June 2012 were examined. Results: The mean age at diagnosis was 5.2 months. There was a history of consanguinity in 61.1% of cystic fibrosis patients. Mutation analysis revealed that 75% of the children had a cystic fibrosis mutation. Gastrointestinal complaints were the most common presenting complaint (43.9%). There was no statistically significant difference between demographic characteristics, age at diagnosis, duration of complaints, hospitalization frequency, sweat test values, and mutation analysis between children presenting with gastrointestinal symptoms, respiratory tract symptoms (31.7%) and the Pseudo-Bartter clinical syndrome (24.4%). Conclusion: Cystic fibrosis is a multisystemic disease with findings related to the respiratory system and gastrointestinal system, and patients might present with the Pseudo-Bartter syndrome as well. It should be noted that cystic fibrosis can present with different clinical presentations due to the different genotypic features in our country.
Published Version
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