DIAGNOSTIC PHYSIOPATHOLOGIE ET GENETIQUE DE LA MUCOVISCIDOSE DANS UNE POPULATION INFANTILE DEL’EST ET DU SUD ALGERIEN
Mots-clés :
Fibrose cystique, mucoviscidose, mutations CFTR, diagnostic génétique du CF, symptômes cliniquesRésumé
Afin d’effectuer un diagnostic phénotypique et génotypique de la mucoviscidose chez une partie de la population algérienne, notre étude a été réalisée sur 16 enfants avec des symptômes évocateurs de la mucoviscidose chez lesquels le contexte clinique a été confirmé par un test de la sueur. Cependant, les anomalies du gène CFTR ont été déterminées par électrophorèse en gel de polyacrylamide (10٪) des produits PCR (Polymerase Chain Reaction), après digestion enzymatique, puis visualisation aux ultraviolets (UV) après action du bromure d’éthidium.Toutes les mutations détectées lors de notre étude ont déjà été identifiées chez des patients atteints par cette pathologie dans les pays du pourtour du bassin méditerranéen. Toutefois, le nombre important de mutations trouvé par rapport à celui des patients étudiés témoigne que l’origine de cette grande variabilité clinique qui caractérise la maladie est la conséquence d’une grande diversité des défauts moléculaires du gène CFTR.
Références
-Baxter P., Goldhill J., Hardcastle J., Hardcastle P.T., & Taylor C.J. Accounting for cystic fibrosis. Nature, (1988), pp. 335 : 211.
-Boucher R.C. Molecular insights into the physiology of the “thin film” of airway surface liquid . J Physiol., 516, (1999), pp. 631-8.
-Boucher R.C. Human airway ion transport.. Am J Respir Crit Care Med.,150, (1994), pp. 271-81 et 581-93
-Boufield T., Konstan M., & Burfeind P. Normal bronchial epithelial cells constituted produce the anti- inflammatory interleukin-10, wich is down regulated in cystic fibrosis. Am J Respir Cell Mol Bio.,13, (1995), pp. 257-61.
-Britigan B.E., Railsback MA. & Cox C.D. The Pseudomonas aeruginosa secretory product pyocyanin inactivates alpha (I) protease inhibitor: Implications for pathogenesis of cystic fibrosis
lung disease. Infect Immun., 67, (1999), pp.1207-12.
-Carnoy C., Ramphal R., & Scharfman A. Altered carbohydrate composition of salivary mucins from patients with cystic fibrosis and the adhesion of Pseudomonas aeruginosa. J Respir Cell Mol
Biol., 9, (1993), pp. 323-34.
-Chehab F., & Wall J. Detection of multiple cystic fibrosis mutations by reverse dot blot hybridisation : A technology for carrier screening. Hum Genet., 89, (1992), pp. 163-168.
-Claustres M., Laussel M., & Desgeorges M. Analysis of the
exons and flanking region of the cystic fibrosis gene: 40 different mutations account for 92,1% of the mutant alleles in southern France. Hum Mol Genet.,2(8), (1993), pp. 1209-1213.
-Chinet Th. Mucoviscidose, In : Friedlander G., Clérici C (eds). Biologie et pharmacologie des epithliums. Paris : EDK., (2000), pp. 89-96
-Chinet, Th. Physiologie de la sécrétion épithéliale .In : Navarro J., Bellon G (eds). La mucoviscidose. Montpellier: Ed Espaces., 34, (2001), pp.33-48.
-Chinet Th., &and Blouquit S. Génétique et biologie cellulaire de la mucoviscidose. Montpellier: Ed Espaces. 34: 33-48. Revue du praticien., 53, (2003), pp. 130-134.
-Davis P.B., Drumm M.L., &and Konstan M.W. State of the art: cystic fibrosis. Am J Resp Crit Care Med., 154, (1996), pp. 1229 – 56.
-De Bentzmann S., Roger, P., &and Puchelle E. Pseudomonas aeruginosa adherence to remodelling respiratory epithelium . Eur Respir J.,9, (1996), pp. 2145-50.
-Dening G.M., Wollenweber L.A. , Railsback M.A., Cox C.D., Stoll L.L., & Britigan B.E. Pseudomonas pyocyanin increase interleukin-8 expression by human airway epithelia cell . Infect Immun., 66, (1998), pp. 5777-84.
-Estivill X., Bancells C., & Ramos C. the Biomed CF Mutation Analysis Consortium.Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat., 10, (1997), pp. 135-54.
-Fanen P., Ghanem N., &Vidaud M. Molecular characterisation of cystic fibrosis : 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmenbrane regulator (CFTR) coding region and splice junctions. Genomics., 13, (1992), pp.770-776.
-Farrell P.M., & Koscik R.E. Sweat chlorid concentrations in infants homozygous or heterozygous for ∆F 508 cystic fibrosis.Pediatrics., (1996), pp 524-7.
-Freedmann S.D., & Alvarez J.G. Pathogenesis of pancratic
disease in cystic fibrosis . Pediatr Pulmonol., Suppl 19, (1999), 129p.
-Goossens M. La découverte du gene de la mucoviscidose.
Médecine/science., 5, (1989), pp. 589-91.
-Hendry J., Elborn JS., Nixon L., Shale D.J., & Webb A.K. Cystic fibrosis: inflammatory response to infection with Burkholderia cepacia and Pseudomonas aeruginosa. Eur Respir J., 14, (1999), pp. 435-38.
-Khan T.Z., Wagener J.S., Bost T., Martinez J., Accurso F.J., & Riches D.W.H. Early pulmonary inflammation in infants with cystic fibrosis. Am J Respir Crist Care Med.,151, (1995), pp. 1075-82.
-Kerem B., Rommens J.M., Buchnan J.A., Markiewics D., Cox T.K., Chakravarti A., Buchwald M., & Tsui L.C. Identification of the cystic fibrosis gene: Genetic analysis.Science., 245, (1989), pp. 1073-1080.
-Littlewood J.M. The sweat test. Arch Dis Child., 61, (1986), pp. 1041-3.
-Miller S.A., Dykes D.D., & Polesky H.G. A simple salting out procedure for extracting DNA from human cucleated cells. Nucleic acids Res., 16, (1988), 1215p.
-Pier G.B., Grout M., & Zaidi T. Cystic fibrosis transmembrane conductance regulator is an epithelial cell receptor for clearance of Pseudomonas aeruginosa from the lung . Proc Natl Acad Sci USA., 94, (1997), pp. 12088-93.
-Pier G.B., Grout M., Zaidi T., Meluleni G., & Mueschenborn S.S. Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature., 393, (1998), pp. 79-82.
-Plotkowski M.C., Debentzmann S., & Pereira S.H.M. Pseudomonas aeruginosa internalization by human epithelial respiratory cells depends on cell differentiation, polarity, and junctional complex integrity. Am J Respir Cell Mol Biol., 20,
(1999), pp. 880-90.
-Puchelle E. CFTR: une protéine à multiples functions. Médecine/sciences., 10, (1994), pp. 627-9.
-Quinton P.M. Physiological basis of cystic fibrosis : a historical perspective. Physiol Rev., 79, (1999), pp. 23-45.
- Rich D.O., Anderson M.P., Gregory R.J., Cheng S.H., Paul S., & Jefferson D. M. Expression of the cystic fibrosis transmembrane conductance regulator corrects defective chloride chnnel regulation in CF airway epithelial cell. Nature., 374( 6291), (1990), pp. 359-63.
-Schales O., & Schales S.S. A simple and accurate method for the determination of chloride in biological fluids. J Biol Chem., 140, (1947), 879p.
-Soleimani M., & Shumaker H. How cystic fibrosis affects pancreatic ductal bicarbonate secretion . Pediatr Pulmonol., Supp19, (1999), pp. 131-2.
- Tabary O., Zahm J., & Hinnrasky J. Genistein inhibits constitutive and inducible NF.B activation ad decreases IL-B production by human cystic fibrosis bronchial gland cells. Am J Pathol.,155, (1999), pp. 473-81.
- Webster H.L. Laboratory diagnosis of cystic fibrosis. Sciences in CRC Press Inc Boca Raton Florida.,18, (1983), pp. 4-1.
- Wilschanski M., Zielenski, J., Markiewiez D., Tsui L.C., Corey M., & Levison H. Correlation of sweat chlorid concentration with classes of the cystic fibrosis transmembrane conductance régulator gene mutations. J Pediatr., 127, (1995), pp. 705-10.
- Zhang Y., Doranz B., Yankaskas J.R., & Engelhardt J.F. Genotypic analysis of respiratory mucous sulfation defects in cystic fibrosis . J Clin Invest., 96, (1995), pp. 2997-3004.
- Zielenski J. Genotype and phenotype in cystic fibrosis.
Respiration.,6, (2000), pp.117-3.
