[Clinical characteristics and outcome of cystic fibrosis: report of 16 cases].

AIM: The aim of this report is to determine clinical characteristics and outcome of Cystic Fibrosis (CF).

METHODS: Cases of CF managed at Infantile Medicine A Department in Children's Hospital of Tunis during 13 years (1994-2006) were reviewed.

RESULTS: 16 children had CF. They were 8 males and 8 females. 13 patients were consanguineous and four had similar familial cases. The mean age at diagnosis was 19 months (10 days, 13 years). 3/4 of patients were symptomatic within the first trimester of life. Revealing symptoms were: obstructive bronchopathy associated to chronic diarrhea (n=6), edema-anemia-hypotrophy-hypoproteinemia syndrome (n=3), meconium ileus (n=4), bronchiectasis (n=2) and chronic diarrhea (n=1). The diagnosis was confirmed by sweat test and genotypic data. The F508 del was the most frequent mutation (54%). Clinical outcome was characterized by the occurrence of respiratory and nutritional complications: acute respiratory failure (n=6), chronic respiratory failure (n=3), chronic pseudomonas aeruginosa infection (n=6) at a medium age of 3.8 years, recurrent haemoptysis (n=2), pleural effusion (n=2), a malnutrition (n =10) and diabetes associated to puberty delay in one patient. Seven patients died at mean age of 4.4 years (6 months, 17.3 years). Among surviving patients, six had no compromised nutritional status or lung function. Prenatal diagnosis was performed in three families.

CONCLUSION: CF is characterized by earliest onset and severity of symptoms. Therapeutic insufficiency is the main cause of precocious complications and poor prognosis in our series.