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

S Hamouda ,Sondess Hadj Fredj,Lamia Boughamoura,Mohamed Taher Sfar,Sihem Barsaoui,Sonia Hilioui,Houda Ajmi,Faten Tinsa,N Gandoura ,Taïeb Messaoud ,A Samoud ,N Gueddiche ,Ahmed Munaz ,M Hachicha ,S Ben Ameur ,F Khalsi ,N Mattoussi ,Habib Besbès ,S Ben Becheur ,R Boussoffara ,Néji Tebib ,S Abroug ,Jihène Bouguila ,K Boussetta

doi:10.4314/ahs.v20i1.51

Abstract

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. 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. In 12 departments, 123 CF children were collected. The median age at diagnosis was 5 months with a median diagnosis 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<0.001, respectively). CF is life-shortening in Tunisia. Setting-up appropriate management is urgent.

Highlights

Cystic fibrosis (CF) is an inherited autosomal-recessive disease caused by a mutation in a gene located in chromosome 7 encoding cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein
In agreement with the Pneumology and Allergology group of the Tunisian Paediatric Society, we aimed to establish a first preliminary national report on the clinical aspects and the genetic specificities of Tunisian CF children in order to have a better assessment of this rare disease in our country
Since 2006, 1900 mutations have been screened as CFTR gene analysis has included the scanning of the 27 exons and their flanking intronic sequences using denaturing gradient gel electrophoresis (DGGE) and denaturing high-pressure liquid phase chromatography (DHPLC)

Summary

Introduction

Cystic fibrosis (CF) is an inherited autosomal-recessive disease caused by a mutation in a gene located in chromosome 7 encoding CF transmembrane conductance regulator (CFTR) protein. Since the first identification of the CFTR gene in 1989, there have been almost 1,900 mu-. African Health Sciences tations reported with variable frequencies depending on ethnic and geographic distribution. CF affects many organs to varying degrees. The lung involvement is frequent and is determinant for the prognosis of patients since it leads to respiratory failure and premature death.[1,2] The sweat test is the key diagnostic test showing a chloride concentration in sweat (sCl-) above 60 mmol/L. Identifying the CFTR mutation consolidates the CF diagnosis and allows an antenatal screening.[3]

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