Cystic fibrosis: An overview

Journal of Clinical Gastroenterology

Volumn 39, Issue 4, 2005, Pages 307-317

  Turcios, Nelson L ^a  

^a SAINT PETER S UNIVERSITY HOSPITAL   (United States)

Author keywords

Congenital bilateral absence of the vas deferens; Cystic fibrosis related diabetes mellitus; Cystic fibrosis transmembrane regulator; Distal intestinal obstruction syndrome

Indexed keywords

4 PHENYLBUTYRIC ACID; ACETYLCYSTEINE; ANTIBIOTIC AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BRONCHODILATING AGENT; CHLORIDE CHANNEL; CHOLINERGIC RECEPTOR BLOCKING AGENT; CIPROFLOXACIN; COLISTIN; CURCUMIN; DEOXYRIBONUCLEASE; GENTAMICIN; IBUPROFEN; IPRATROPIUM BROMIDE; MACROGOL; MACROGOL 3350; MUCOLYTIC AGENT; SALMETEROL; TOBRAMYCIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; URIDINE TRIPHOSPHATE;

APICAL MEMBRANE; BRONCHOSPASM; CYSTIC FIBROSIS; GENE ISOLATION; GENE THERAPY; HUMAN; MOLECULAR CLONING; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REVIEW;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENOTYPE; HUMANS; PHENOTYPE; PREVALENCE; WORLD HEALTH;

EID: 15344345842     PISSN: 01920790     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcg.0000155140.63510.cd     Document Type: Review

References (66)

1. Patient Registry Annual Report. Bethesda, MD: Cystic Fibrosis Foundation, 1995.
2. Collins FS. Cystic fibrosis; molecular biology and therapeutic implications. Science. 1992;256:774-779.
3. Cystic Fibrosis Genetic Analysis Consortium. Cystic Fibrosis Mutation Data Base. http://www.genetisikkids.on.ca/cftr/.
4. Vankeerberghen A, Cuppens H, Cassiman JJ. The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotrophic functions. J Cystic Fibrosis. 2002;1:13-29.
5. Boucher R, Cotton CU, Gatzy JT, et al. Evidence for reduced CI- and increased Na+ permeability in cystic fibrosis human primary cell cultures. J Physiol. 1988;404:77-103.
6. Quinton PM. The neglected ion: HCO3. Nat Med. 2001;7:292-293.
7. Zero X. The cystic fibrosis genotype-phenotype consortium: correlation between genotype and phenotype in cystic fibrosis. N Engl J Med. 1993; 329:1308-1313.
8. Bush A, Wallis C. Time to think again: cystic fibrosis is not an 'all or none' disease. Pediatr Pulmonol. 2000;30:139-144.
9. Orenstein DM, Rosenstein BJ, Stern RC, eds. Cystic Fibrosis Medical Care. Philadelphia: Lippincott Williams & Wilkins, 2000:21-55.
10. Davis PM. Cystic fibrosis. Pediatr Rev. 2001;8:257-263.
11. Khan TZ, Wagener JS, Bost T, et al. Early pulmonary inflammation in infants with cystic fibrosis. Am J Respir Crit Care Med. 1995;151:1075-1082.
12. Imundo L, Barasch J, Prince A, et al. Cystic fibrosis epithelial cells have a receptor for pathogenic bacteria on their apical surface. Proc Natl Acad Sci USA. 1995;92:3019-3023.
13. Smith JJ, Travis SM, Greenberg EP, et al. Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid. Cell. 1996; 85:229-236.
14. Matsui H, Grubb BR, Tarran R, et al. Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease. Cell. 1998;95:1005-1015.
15. Döring G. Management of infection in cystic fibrosis. Hosp Pharm. 2002;5:65-69.
16. Fitzsimmons FC. The changing epidemiology of cystic fibrosis. J Pediatr. 1993;122:1-9.
17. Kahl B, Herrman M, Everding AS, et al. Persistent infection with small colony variant strains of Staphylococcus aureus in patients with cystic fibrosis. J Infect Dis. 1998;177:1023-1029.
18. Stutman HR, Lieberman JM, Nussbaum E, et al. Antibiotic prophylaxis in infants and young children with cystic fibrosis: a randomized controlled trial. J Pediatr. 2002;140:299-305.
19. Ramsey BW, Pepe MS, Quan JM, et al. Intermittent administration of inhaled Tobramycin in patients with cystic fibrosis. N Engl J Med. 1999;340:23-30.
20. Saiman L, Marshall BC, Mayer-Hamblett N, et al. A multicenter, randomized, placebo controlled, double-blind trial of azythromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa. JAMA. 2003;290:1749-1756.
21. Ratjen F, Döring G, Nikolaizik W. Eradication of Pseudomonas aeruginosa with inhaled tobramycin in patients with cystic fibrosis. Lancet. 2001;358:983-984.
22. Eigen H, Rosenstein BJ, Fitsimmons S, et al. A multicenter study of alternate-day prednisone therapy in patients with cystic fibrosis. J Pediatr. 1995;126:515-523.
23. Konstan MW, Byard PJ, Hoppel CL, et al. Effect of high-dose ibuprofen in patients with cystic fibrosis. N Engl J Med. 1995;332:848-854.
24. Kearney CE, Wallis CE. Deoxyribonuclease for cystic fibrosis (Cochrane Review). Cochrane Database Syst Rev. 2000;2:CD001127.
25. Wark PA, McDonald V. Nebulized hypertonic saline for cystic fibrosis (Cochrane Review). Cochrane Database Syst Rev. 2000;2:CD001506.
26. Flotte TR, Laube BL. Gene therapy in cystic fibrosis. Chest. 2001;120 (suppl):124-131.
27. Hamilton JW. Gentamicin in pharmacogenetic approach to treatment of cystic fibrosis. Lancet. 2001;358:2014.
28. Cheng SH, Gregory RJ, Marshall J, et al. Defective intracellular traffic and processing of CFTR is the molecular basis of most cystic fibrosis. Cell. 1990;63:827-834.
29. Kalin N, Class A, Sommer M, et al. DeltaF 508 CFTR protein expression in tissues from patients with cystic fibrosis. J Clin Invest. 1990;103:1379-1389.
30. Knowles MR, Clarke LL, Boucher RC. Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis. N Engl J Med. 1991;325:533-538.
31. Kopelman H, Dune P, Gaskin K, et al. Pancreatic fluid secretion and protein hyper concentration in cystic fibrosis. N Engl J Med. 1985;312: 329-334.
32. Borowitz D, Baker S, Duffy L, et al. Use of fecal elastase-1 to classify pancreatic status in patients with cystic fibrosis. J Pediatr. 2004;145:322-326.
33. Farrell PM, Kosorok MR, Rock MJ, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth: Wisconsin Cystic Fibrosis Screening Study Group. Pediatrics. 2001;107:1-13.
34. Allen HF. Cystic fibrosis related diabetes: diagnosis and treatment. Pediatr Pulmonol. 2004;27(suppl):150-151.
35. Sokol RJ, Durie PR. Recommendations for management of liver and biliary tract disease in cystic fibrosis: Cystic Fibrosis Foundation Hepatobiliary Disease Consensus Group. J Pediatr Gastroenterol Nutr. 1999;28 (suppl):1-13.
36. Colombo C, Bennato V, et al. Long-term outcome of CF-associated liver disease. Pediatr Pulmonol. 2004;27(suppl):131-132.
37. Gaskin KJ, Waters DL, Howman-Giles R, et al. Liver disease and commonbile-duct stenosis in cystic fibrosis. N Engl J Med. 1988;318:340-346.
38. Sheperd RW, Smith JL. Are there biomarkers of early CF-related liver disease? Pediatr Pulmonol. 2004;27(suppl):128-129.
39. Poupon RE, Lindor KD, Cauch-Dudek K, et al. Combined analysis of randomized controlled trials of ursodeoxycholic acid in primary biliary cirrhosis. Gastroenterology. 1997;113:884-890.
40. Colombo C, Battezzati PM, Podda M, et al. Ursodeoxycholic acid for liver disease associated with cystic fibrosis. Hepatology. 1999;23:1484-1490.
41. Heuman DM. Hepatoprotective properties of ursodeoxycholic acid. Gastroenterology. 1993;1404:1865-1870.
42. Botla R, Spivey JR, Aguilar H, et al. Ursodeoxycholate (UDCA) inhibits the mitochondrial membrane permeability transition induced by glycochenodeoxycholate: a mechanism of UDCA cytoprotection. J Pharmacol Exp Ther. 1995;272:930-938.
43. Nousia-Arvanitakis S, Fotoulaki M, Economou H, et al. Long-term prospective study of the effect of ursodeoxycholic acid on cystic fibrosis-related liver disease. J Clin Gastroenterol. 2001;32:324-332.
44. Colombo C, Castellani MR, Balistreri WF, et al. Scintigraphic documentation of an improvement in hepatobiliary excretory function after treatment with ursodeoxycholic acid in patients with cystic fibrosis and associated liver disease. Hepatology. 1992;15:677-684.
45. Sokol RJ. Fat-soluble vitamins and their importance in patients with cholestatic liver disease. Gastroenterol Clin North Am. 1994;23:673-705.
46. Hayes PC, Davis JM, Lewis JA, et al. Meta-analysis of value of propranolol in prevention variceal hemorrhage. Lancet. 1990;336:153-156.
47. Sarin SK, Lamba GS, Kumar M, et al. Comparison of endoscopic ligation and propranolol for the primary prevention of variceal bleeding. N Engl J Med. 1999;340:988-993.
48. Kerns SR, Hawkins IF Jr. Transjugular intrahepatic portosystemic shunt in a child with cystic fibrosis. AJR Am J Roentegenol. 1992;159:1277-1278.
49. Noble-Jamieson G, Valente J, Barnes ND, et al. Liver transplantation for hepatic cirrhosis in cirrhosis in cystic fibrosis. Arch Dis Child. 1994;71: 349-352.
50. Modolell I, Alvarez A, Guarner L, et al. Gastrointestinal, liver, and pancreatic involvement in adult patients with cystic fibrosis. Pancreas. 2001;22:395-399.
51. Colombo C, Bertolini E, Assaisso ML, et al. Failure of ursodeoxycholic acid to dissolve radiolucent gallstones in patients with cystic fibrosis. Acta Paediatr. 1993;82:562-565.
52. Neglia JP, FitzSimmons SC, Maisonneuve P, et al. The risk of cancer among patients with cystic fibrosis: Cystic Fibrosis and Cancer Study Group. N Engl J Med. 1995;332:494-499.
53. Littlewood JM. Abdominal pain in cystic fibrosis. J R Soc Med. 1995;88:9-17.
54. Ledson MJ, Tran J, Walshaw MJ. Prevalence and mechanisms of gastroesophageal reflux in adult cystic fibrosis patients. J R Soc Med. 1998;91:7-9.
55. Cohn JA, Bornstein JD, Jowell PS. Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis. Med Clin North Am. 2000;84:621-631.
56. Shields MD, Levison H, Reisman JJ, et al. Appendicitis in cystic fibrosis. Arch Dis Child. 1991;66:307-310.
57. Wu TC, McCarthy VP, Gill VJ. Isolation rate and toxigenic potential of Clostridium difficile isolates from patients with cystic fibrosis. J Infect Dis. 1983;148:176.
58. Ramsey BW, Farrell PM, Pencharz P. Nutritional assessment and management in cystic fibrosis: a consensus report. The Consensus Committee. Am J Clin Nutr. 1992;55:108-116.
59. Park RW, Grand RJ. Gastrointestinal manifestations of cystic fibrosis: a review. Gastroenterology. 1981;81:1143-1161.
60. FitzSimmons SC, Burkhart GA, Borowitz D, et al. High dose pancreatic-enzyme supplements and fibrosing colonopathy in children with cystic fibrosis. N Engl J Med. 1997;336:1283-1289.
61. Chaum H, Paty B, Nakielna EM, et al. Colonie carcinoma in two adult cystic fibrosis patients. Can J Gastroenterol. 1996;10:440-442.
62. Kotloff RM, FitzSimmons SC, Fiel SB. Fertility and pregnancy in patients with cystic fibrosis. Clin Chest Med. 1992;13:623-635.
63. Doershuk CF, Stern RC. Timing of referral for lung transplantation for cystic fibrosis: overemphasis on FEV1 may adversely affect overall survival. Chest. 1999;115:782-787.
64. Yankaskas JR, Mallory GB Jr. Lung transplantation in cystic fibrosis: consensus conference statement. Chest. 1998;113:217-226.
65. Liou TG, Adler FR, Cahill BC, et al. Survival effect of lung transplantation for patients with cystic fibrosis. JAMA. 2001;286:2686-2689.
66. Patient Registry Annual Report. Bethesda, MD: Cystic Fibrosis Foundation, 2002.