Biochemical and molecular study in Tunisian cystic fibrosis population

Abstract

Objective: We have been interested in the present work in the biochemical and molecular study in children with cystic fibrosis. Patients and methods: Our study was conducted on 22 cystic fibrosis patients and 30 control subjects. The sweat test was performed by the Exsudose technique. The molecular study of the gene responsible for cystic fibrosis was conducted by Denaturing high performance liquid chromatography (DHPLC) followed by sequencing. The biochemical parameters analyzed were determined on Cobas c501 and Cobas e411 analyzers. Protein electrophoresis was performed on Minicap (Sebia). Results and Discussion: The 22 patients studied had a positive sweat test with an average chloride ion of 95.05 ± 18.31 mmol / L. Molecular analysis allowed us to identify 6 different mutations, the most common being F508del (40.9%). The study of the biochemical parameters showed a significant difference between the cystic fibrosis patients and the control group for transaminases (ASAT and ALAT), serum iron and alpha-1 globulin. These variations are related to bacterial infections observed in cystic fibrosis patients, chronic inflammation and intestinal malabsorption of micronutrients. Conclusion: The obtained results allowed us to evaluate the impact of cystic fibrosis on the variation of certain biochemical parameters. The diagnosis of orientation is based on a positive sweat test which is the most reliable biological test for the diagnosis of cystic fibrosis. A molecular study of the CFTR gene makes possible the identification, with certainty, the molecular lesion responsible for this pathology.