ABSTRACT
Background: The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients
Aim: to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients
Methods: Cases of cystic fibrosis managed at pediatric departments of Tunis, during 15 years [1997-2012], were reviewed
Results:33 children [23 males and 10 females] were enrolled. The Onset was within the first year of life in 26 patients. Revealing symptoms were the following: recurrent bronchopneumonia [28 cases], chronic diarrhea [17 cases], hepatomegaly [6 cases], malnutrition [15 cases], pseudo Bartter syndrome [3 cases], edemaanemia- hypoprotidemia [4 cases] and meconium ileus [4 cases]. The diagnosis was confirmed by sweat test and genotypic data, the F508 del was the most frequent mutation [17 cases]. Several complications had occurred during follow-up: chronic pseudomonas aeruginosa infection [15 cases], chronic respiratory failure [14 cases], recurrent hemoptysis [2 cases], pleural effusion [3 cases] and cirrhosis [2 cases]. Ten patients died at a mean age of 7 years. One patient had pulmonary transplantation. Prenatal diagnosis was performed in 9 families
Conclusion: In Tunisia, cystic fibrosis is not exceptional, but its diagnosis is delayed. Our survey is characterized by more severe earliest forms, difficult and insufficient therapeutic management. A Better medical awareness and a national action plan are needed