Focus
Quello che un pediatra deve sapere sulla fibrosi cistica
WHAT PRIMARY CARE PHYSICIANS MUST KNOW ABOUT CYSTIC FIBROSIS
GIUSEPPE MAGAZZŮ, MARIANGELA LOMBARDO, MARIA CRISTINA LUCANTO, CATERINA RUGGERI, CONCETTA SFERLAZZAS
UO di Fibrosi Cistica e Gastroenterologia Pediatrica, Universitŕ di Messina
Marzo 2006 - pagg. 155 -173
LA FIBROSI CISTICA TRA PRESENTE E FUTURO
Abstract
The medical care of the patient with CF is ideally carried out with the joint efforts of the CF Center specialists and the patient’s primary care physician (PCP). The implementation of a nation-wide neonatal screening may represent a unique opportunity for an early care by both CF Centers and PCPs and for sharing protocols of care, which are summarized in the present article. CF Centers and scientific communities should understand the importance of improving PCPs knowledge and expertise on the needs of CF patients.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
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16. Castellani C, Tamanini A, Mastella G. Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis. Arch Dis Child 2000; 82:481-2.
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18. Ciske DJ, Haavisto A, Laxova A, Rock LZM, Farrell PM. Genetic Counseling and Neonatal Screening for Cystic Fibrosis: An Assessment of the Communication Process. Pediatrics 2001;107:699- 705.
19. Farrell PM, Kosorok MR, Laxova A, et al. for The Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Nutritional benefits of neoanatal screening for cystic fibrosis. N Engl J Med 1997; 337:963-9.
20. Farrell PM, Li Z, Kosorok MR, et al. Bronchopulmonary Disease in Children with Cystic Fibrosis after Early or Delayed Diagnosis. Am J Respir Crit Care Med 2003;68: 1100-8.
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22. Ramsey BW. Drug therapy: management of pulmonary disease in patients with cystic fibrosis. N Engl J Med 1996;335:179-88.
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26. Conway SP, Morton A, Wolfe S. Enteral tube feeding for cystic fibrosis. Cochrane Database Syst Rev 2000.
27. Jelalian E, Stark LJ, Reynolds L, Seifer R. Nutrition intervention for weight gain in cystic fibrosis: a meta analysis. J Pediatr 1998; 132:486-92.
28. Rosenfeld M, Casey S, Pepe M, Ramsey BW. Nutritional effects of long-term gastrostomy feedings in clildren with cystic fibrosis. J Am Diet Assoc 1999;99:191-4.
29. Colombo C, Battezzati PM. Liver involvement in cystic fibrosis: primary organ damage or innocent bystander? J Hepatol 2004;41-1041-4.
30. Costa M, Potvin S, Berthiaume Y, et al. Diabetes: a major co-morbidity of cystic fibrosis. Diabetes Metab 2005;31:221-32.
31. Koletzko S, Stringer DA, Cleghorn GJ, Durie PR. Lavage treatment of distal intestinal obstruction syndrome in children with cystic fibrosis. Pediatrics 1989;83:727-33.
32. Cystic Fibrosis Foundation Consensus Conference Report on pulmonary complications of cystic fibrosis. Pediatr Pulmonol 1993;15:187-98.
33. Cassell E. From detached concern to empathy: humanizing medical practice. N Engl J Med 2002; 347:1628-9
34. Barbour V, Kleinert S. Bridging the divide. Lancet 2001;Suppl 358.
2. Cystic Fibrosis Foundation Registry. 2001 Annual Data Report to the Center Directors. Bethesda, MD: Cystic Fibrosis Foundation, 2002.
3. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245:1066-73.
4. Cystic fibrosis Mutation Database www.genet. sckkids.on.ca/cftr/
5. Gibson RL, Burns JL, Ramsey BW. State of the Art. Pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Respir Crit Care Med 2003;168:918-51.
6. Davies JC, Alton EW. Airway gene therapy. Adv Genet 2005;54:291-314.
7. Kerem E, Corey M, Kerem BS, et al. The relation between genotype and phenotype in cystic fibrosis - analysis of the most common mutation (ΔF508). N Engl J Med 1990;323: 1517-22.
8. McKone EF, Scott SS, Edwards KL, Aitken ML. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003;361:1671-6.
9. Drumm ML, Konstan MW, Scluchter MD, et al. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 2005;353:1443-53.
10. Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332:1475-80.
11. Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998;339:653-8.
12. Wang X, Moylan B, Leopold DA, et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 2000;284:1814-9.
13. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998;132: 589-95.
14. Fost N, Farrell PM. A prospective randomized trial of early diagnosis and treatment of cystic fibrosis: a unique ethical dilemma. Clin Res 1989;37:495- 500.
15. Accurso FJ, Sokol RJ, Hammond KB, Abman SH. Early respiratory course in infants with cystic fibrosis: relevance to newborn screening. Pediatr Pulmonol (Suppl) 1991;7:42-5.
16. Castellani C, Tamanini A, Mastella G. Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis. Arch Dis Child 2000; 82:481-2.
17. Padoan R, Bassotti A, Seia M, Corbetta C. Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations. Eur J Pediatr 2002;161:212-5.
18. Ciske DJ, Haavisto A, Laxova A, Rock LZM, Farrell PM. Genetic Counseling and Neonatal Screening for Cystic Fibrosis: An Assessment of the Communication Process. Pediatrics 2001;107:699- 705.
19. Farrell PM, Kosorok MR, Laxova A, et al. for The Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Nutritional benefits of neoanatal screening for cystic fibrosis. N Engl J Med 1997; 337:963-9.
20. Farrell PM, Li Z, Kosorok MR, et al. Bronchopulmonary Disease in Children with Cystic Fibrosis after Early or Delayed Diagnosis. Am J Respir Crit Care Med 2003;68: 1100-8.
21. Orenstein DM, Winnie GB, Altman H. Cystic fibrosis: A 2002 update. J Pediatr 2002;140:156-64.
22. Ramsey BW. Drug therapy: management of pulmonary disease in patients with cystic fibrosis. N Engl J Med 1996;335:179-88.
23. Ramsey BW, Farrell PM, Pencharz P, and the Consensus Committee. Nutritional Assessment and management in cystic fibrosis: a consensus report. Am J Clin Nutr 1992;55: 108-16.
24. Tedeschi A, Conti Nibali S, Sferlazzas C, Profiti V, Magazzů G. Short stature and malnutrition in cystic fibrosis. Lancet 1989;1:100.
25. Pencharz PB, Durie PR. Pathogenesis of malnutrition in cystic fibrosis, and its treatment. Clin Nutr 2000;19:387-94.
26. Conway SP, Morton A, Wolfe S. Enteral tube feeding for cystic fibrosis. Cochrane Database Syst Rev 2000.
27. Jelalian E, Stark LJ, Reynolds L, Seifer R. Nutrition intervention for weight gain in cystic fibrosis: a meta analysis. J Pediatr 1998; 132:486-92.
28. Rosenfeld M, Casey S, Pepe M, Ramsey BW. Nutritional effects of long-term gastrostomy feedings in clildren with cystic fibrosis. J Am Diet Assoc 1999;99:191-4.
29. Colombo C, Battezzati PM. Liver involvement in cystic fibrosis: primary organ damage or innocent bystander? J Hepatol 2004;41-1041-4.
30. Costa M, Potvin S, Berthiaume Y, et al. Diabetes: a major co-morbidity of cystic fibrosis. Diabetes Metab 2005;31:221-32.
31. Koletzko S, Stringer DA, Cleghorn GJ, Durie PR. Lavage treatment of distal intestinal obstruction syndrome in children with cystic fibrosis. Pediatrics 1989;83:727-33.
32. Cystic Fibrosis Foundation Consensus Conference Report on pulmonary complications of cystic fibrosis. Pediatr Pulmonol 1993;15:187-98.
33. Cassell E. From detached concern to empathy: humanizing medical practice. N Engl J Med 2002; 347:1628-9
34. Barbour V, Kleinert S. Bridging the divide. Lancet 2001;Suppl 358.
Corrispondenza: giuseppe.magazzu@unime.it