Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs

Autor: Sondess Hadj Fredj, Sihem Barsaoui, Lamia Boughamoura, Taieb Messaoud, Ahmed Mehrezi, Sonia Hilioui, Jihene Bouguila, S. Hamouda, Salma Ben Ameur, Khadija Boussetta, H. Ajmi, Mohamed Taher Sfar, N. Mattoussi, Saida Ben Becheur, Saoussen Abroug, Neji Tebib, Habib Besbes, Raoudha Boussoffara, F. Khalsi, Najoua Gandoura, N. Gueddiche, Faten Tinsa, A. Samoud, Mongia Hachicha
Rok vydání: 2021
Předmět:
Zdroj: African Health Sciences
ISSN: 1729-0503
Popis: Aim: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization. Methods: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children’s departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients’ medical records. Results: In 12 departments, 123 CF children were collected. The median age at diagnosis was 5 months with a median diag- nosis delay of 3 months. CF was revealed mostly by recurrent respiratory tract infections (69.9%), denutrition (55.2%), and/ or chronic diarrhea (41.4%). The mean sweat chloride concentration was 110.9mmol/L. At least one mutation was found in 95 cases (77.2%). The most frequent mutations were Phe508del (n=58) and E1104X (n=15). Fifty-five patients had a Pseudomonas Aeruginosa chronic colonization at a median age of 30 months. Cirrhosis and diabetes appeared at a mean age of 5.5 and 12.5 years respectively in 4 patients each. Sixty-two patients died at a median age of 8 months. Phe508del mutation and hypotrophy were associated with death (p=0.002 and p
Databáze: OpenAIRE