Læknablaðið - 15.12.2008, Blaðsíða 41

FRÆÐIGREINAR
YFIRLITSGREIN
23. Elkins MR, Robinson M, Rose BR, et al. A controlled trial of
long-term inhaled hypertonic saline in patients with cystic
fibrosis. N Engl J Med 2006; 354: 229-40.
24. Fayon M; Airway-Inflammation Group, Societe Francaise
de Mucoviscidose. CF-Emerging therapies: Modulation
inflammation. Paediatr Respir Rev 2006; 7 Suppl l:S170-4.
25. Fuchs HJ, Borowitz DS, Christiansen DH, et al. Effect of
aerosolized recombinant human DNase on exacerbations
of respiratory symptoms and on pulmonary function in
patients with cystic fibrosis. The Pulmozyme Study Group.
N Engl J Med 1994; 331: 637-42.
26. Yankaskas JR, Mallory GB. Lung transplantation in cystic
fibrosis: consensus conference statement. Chest 1998; 113:
217-26.
27. Rey E, Tréluyer J-M, Pons G. Drug Disposition in Cystic
Fibrosis. Clin Pharmacokinet 1998; 35: 313-29.
28. Bolton CE, Ionescu AA, Evans WD, Pettit RJ, Shale DJ.
Altered tissue distribution in adults with cystic fibrosis.
Thorax 2003; 58: 885-9.
29. Elbom JS, Prescott RJ, Stack BH, et al. Elective versus
symptomatic antibiotic treatment in cystic fibrosis
patients with chronic Pseudomonas infection of the lungs.
Thorax 2000; 55: 355-8.
30. 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.
31. Bals R, Weiner DJ, Wilson JM. The innate immune system in
cystic fibrosis lung disease. J Clin Invest 1999; 103: 303.
32. Eigen H, Rosenstein BJ, FitzSimmons S, Schidlow DV. A
multicenter study of altemate-day prednisone therapy in
patients with cystic fibrosis. Cystic Fibrosis Foundation
Prednisone Trial Group. J Pediatr 1995; 126: 515-23.
33. Lai HC, FitzSimmons SC, Allen DB, et al. Risk of persistent
growth impairment after alternate-day prednisone treatment
in children with cystic fibrosis. N Engl J Med 2000; 342: 851-
9.
34. Nikolaizik WH, Schoni MH. Pilot study to assess the effect
of inhaled corticosteroids on lung function in patients with
cystic fibrosis. J Pediatr 1996; 128: 271-4.
35. Asgrímsson V, Guðjónsson T, Guðmundsson GH, Baldursson
Ó. Novel effects of Azithromycin on Tight Junction Proteins
in Human Airway Epithelia. Antimicrob Agents Chemother
2006; 50:1805-12.
36. Equi A, Balfour-Lynn IM, Bush A, Rosenthal M. Long term
azithromycin in children with cystic fibrosis: a randomised,
placebo-controlled crossover trial. Lancet 2002; 360: 978-84.
37. Hardin DS, Moran A. Diabetes mellitus in cystic fibrosis.
Endocrinol Metab Clin North Am 1999; 28: 787-800, ix.
38. Cheng K, Ashby D, Smyth R. Ursodeoxycholic acid for cystic
fibrosis-related liver disease. Cochrane Database of Systematic
Reviews 1999; 3: CD000222. DOI: 10.1002/14651858.
39. 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.
40. Conway SP. Bone mineral density in adults with cystic
fibrosis. Thorax 1999; 54: 957.
41. Lipnick RN, Glass RB. Bone changes associated with cystic
fibrosis. Skeletal Radiol 1992; 21:115-6.
42. Merkel PA. Rheumatic disease and cystic fibrosis. Arthritis
Rheum 1999; 42:1563-71.
43. Raffini LJ, Raybagkar D, Blumenstein MS, Rubenstein RC,
Manno CS. Cystic fibrosis as a risk factor for recurrent venous
thrombosis at a pediatric tertiary care hospital. J Pediatr 2006;
148: 659-64.
44. Knowles MR, Hohneker KW, Zhou Z, et al. A controlled
study of adenoviral-vector-mediated gene transfer in the
nasal epithelium of patients with cystic fibrosis. N Engl J Med
1995; 333: 823-31.
Cystic Fibrosis - Review
The purpose of this paper is to give a brief overview of
cystic fibrosis; its pathogenesis, diagnosis, treatment
and prognosis. Cystic fibrosis is an autosomal recessive
disorder, which is caused by a mutation in the CFTR
protein, a chloride channel in epithelial cell membranes.
More than 1500 mutations are known. The incidence
is 1/2.000-3.000 in nations of European origin. The
CFTR mutation influences the secretion and absorption
by epithelium in various organs. The consequences
are different depending on the organ, but there is a
global tendency for obstruction of secretory glands.
The primary organs affected are the respiratory tract,
pancreas, gastrointestinal tract and sweat glands. The
disease is most often diagnosed during the first months
of life, with a common presentation of salty tasting
sweat, failure to thrive and diverse faecal problems.
Possible diagnostic tools are sweat test and DNA testing.
Respiratory symptoms cause most morbidity, with chronic
infections and an exaggerated inflammatory response.
Abnormal water and electrolyte composition leads
to thicker respiratory secretions compared to that of
healthy individuals. The interaction of pathogens with the
epithelium causes S.aureus and later P.aeuruginosa, to
transform into a mucoid form which is much more difficult
to eradicate with antibiotics, making them a significant
part of the disease burden of cystic fibrosis. The main
respiratory medications are antibiotics, bronchodilators,
mucolytic agents and anti-inflammatory agents. 90% of
cystic fibrosis patients have pancreas insufficiency which is
treated with pancreas enzymes. A good nutritional status is
a necessary basis for any further treatment. The prognosis
of cystic fibrosis patients has improved greatly over the
last few decades in parallel with increased knowledge,
and the average survival is currently 37 years in the
United States.
Key words: Cystic fibrosis, CFTR, pathogenesis, diagnosis, treatment.
Jonsdottir B, Bergsteinsson H, Baldursson O. Cystic Fibrosis - Review. Icel Med J 2008; 94: 831-7.
Correspondence: Ólafur Baldursson, olafbald@landspitali.is
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Barst: 31. mars 2008, - samþykkt til birtingar: 5. nóvember 2008.
LÆKNAblaðið 2008/94 837