Fibrose kystique : étude des marqueurs moléculaires

Abstract

Cystic fibrosis is the most common autosomal recessive inherited genetic disorder in the European population. This pathology is due to the dysfunction of the CFTR protein (Cystic Fibrosis Transmembrane Conductance Regulator), a chloride channel present at the apical membrane of epithelial cells. The deficiency of the CFTR channel, lead to hydroelectrolytic disturbances which are at the origin of the hyper viscosity of the mucous secretions. The severity of the disease depends on the mutation (s) of the CFTR gene. The implementation of the sweat test is recommended in order to reduce the delays in diagnosis and to allow an early intervention for the respiratory and nutritional management of the disease. Through this work, we wish to evaluate the 7 years (2011-2018) of implementation of the sweat test in Mostaganem and contribute to the genotypic diagnosis of cystic fibrosis. This study collected 1113 patients from 24 Wilaya, aged from a few days to more than 20 years, consanguinity was found in 31.18% of cases. This test was motivated for respiratory signs in 58.22% of cases, intestinal signs in 18% of cases, stunting / malnutrition in 17.45% of cases. Sweat tests were positive in 8% of cases, negative 84% of cases and intermediate in 2% of patients. Cystic fibrosis is a rare but not exceptional disease in our country.