Aggiornamento monografico
Fibrosi cistica: dal gene alla pratica
CYSTIC FIBROSIS FROM GENES TO PRACTICE
LUISELLA GIGLIO, DINO FARAGUNA
Clinica Pediatrica, IRCCS Burlo Garofolo, Trieste
Gennaio 1999 - pagg. 21 -25
Abstract
The identification of CF gene prompted several advances in the understanding of the disease,
as well as practical improvements in the diagnosis. New perspectives are also open
with respect to screening programs and therapeutic implications. At present, due to the high
number of mutations in the CF gene, screening programs based on genetic screening
are not recommended, and genetic testing is indicated only for cases where CF is suspected
on clinical grounds and sweat test is negative or border line. Relationship between genotype
and fenotype have also been partially clarified: a strict association does exist for
pancreatic function, but not for lung disease. Therapeutic perspectives are based on gene
therapy or pharmacological activation of CFTR; in this area there are encouraging results
but clinical application is still not possible.
Classificazione MeSH
Bibliografia
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12. Castellani C, Bonizzato A, Cabrini G, Mastella G: Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. Acta Paediatr 86, 497- 502, 1997.
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18. Statement from the National Institutes of Health Workshop on population screening for cystic fibrosis gene. N Engl J Med 323, 70-71, 1990.
19. Statement of Society of Human Genetics on cystic fibrosis screening. Am J Hum Genet 51, 1443-44, 1992.
20. McElvaney NG: Is gene therapy in cystic fibrosis a realistic expectation? Current Opinion in Pulmonary Medicine 2, 466-71, 1996.
21. Knowles MR, Hohneker KW, Zhou Z, et al: A controlled study of adenoviral-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N Engl J Med 333, 823-31, 1995.
22. Henig N, Aitken M: Update on clinical trials of cystic fibrosis. Current Opinion in Pulmonary Medicine 3, 404-09, 1997.
23. Wilschanski M, Zielenski J, Markiewich D, et al: Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 127, 705-10, 1995.
24. Southern KW: F508 in cystic fibrosis: willing but not able. Arch Dis Child 76, 278-82, 1997.
2. Rosenstein BJ, Zeitlin PL: Cystic fibrosis. Lancet 351, 277-82, 1998.
3. Wallis C: Diagnosing cystic fibrosis: blood, sweat and tears. Arch Dis Child 76, 85-91, 1997.
4. Davis P, Drumm M, Konstan M: Cystic fibrosis. Am J Resp Crit Care Med 154, 1229-56, 1996.
5. Stern R: The diagnosis of cystic fibrosis. N Engl J Med 336, 487-91, 1997.
6. Kerem E, Kerem K: Genotype-Phenotype correlations in cystic fibrosis. Pediatr Pulmonol 22, 387-95, 1996.
7. Cystic Fibrosis Foundation Consensus Conference: The diagnosis of cystic fibrosis: consensus statement. Cystic Fibrosis Foundation vol 7, sez.I, 1-15, 1996.
8. Mastella G: Relationships between gene mutations and clinical features in cystic fibrosis. Pediatr Pulmonol 11 suppl, 63-65, 1995.
9. Farrell PM, Kosorok MR, Laxova A, et al: Nutritional benefits of neonatal screening for cystic fibrosis. New Engl J Med 337, 963-69, 1997.
10. Faraguna D, Giglio L, DOrazio C, et al: Is clinical status at diagnosis a prognostic factor in CF infants identified by neonatal screening? Ped Pulmonol suppl 7, 46-51, 1991.
11. Dankert-Roelse JE, Meerman GJ: Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre. Thorax 50, 712-8, 1995.
12. Castellani C, Bonizzato A, Cabrini G, Mastella G: Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. Acta Paediatr 86, 497- 502, 1997.
13. Wilken B, Wiey V, Sherry G, Bayliss U: Neonatal screening for cystic fibrosis: A comparison of two strategies for case detection in 1.2 million babies. J Pediatr 127, 965-70, 1995.
14. Gregg R , Simantel A, Farrell P, et al: Newborn screening for cystic fibrosis in Wisconsin: Comparison of biochemical and molecular methods. Pediatrics 99, 819-24, 1997.
15. Ferec C, Verlingue C, Parent P, et al: Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreattive trypsinogen and cystic fibrosis gene mutation analyses. Hum Genet 96, 542-48,1995.
16. Giglio L, Candusso M, DOrazio C, Mastella G, Faraguna D: Failure to thrive: the earliest feature of cystic fibrosis in infants diagnosed by neonatal screening. Acta Paediatr 86, 1162-65, 1997.
17. Borgo G: Quale screening per la fibrosi cistica nel 2000? Medico e Bambino 4, 23-28, 1996.
18. Statement from the National Institutes of Health Workshop on population screening for cystic fibrosis gene. N Engl J Med 323, 70-71, 1990.
19. Statement of Society of Human Genetics on cystic fibrosis screening. Am J Hum Genet 51, 1443-44, 1992.
20. McElvaney NG: Is gene therapy in cystic fibrosis a realistic expectation? Current Opinion in Pulmonary Medicine 2, 466-71, 1996.
21. Knowles MR, Hohneker KW, Zhou Z, et al: A controlled study of adenoviral-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N Engl J Med 333, 823-31, 1995.
22. Henig N, Aitken M: Update on clinical trials of cystic fibrosis. Current Opinion in Pulmonary Medicine 3, 404-09, 1997.
23. Wilschanski M, Zielenski J, Markiewich D, et al: Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 127, 705-10, 1995.
24. Southern KW: F508 in cystic fibrosis: willing but not able. Arch Dis Child 76, 278-82, 1997.