Zusammenfassung
Die zystische Fibrose (CF) als eine der häufigsten autosomal rezessiv vererbbaren
Erkrankungen stellt nach dem enormen Wissenszuwachs über die molekularen und pathophysiologischen
Hintergründe dieser Stoffwechselkrankheit in den letzten 15 Jahren mittlerweile eine
Herausforderung für viele medizinische, klinische und wissenschaftliche Disziplinen
dar. Neben dem Pädiater sind der Pneumologe, Gastroenterologe, Chirurg, Orthopäde,
Gynäkologe und HNO-Arzt für eine adäquate medizinische Versorgung der Patienten notwendig.
Einen ebenso hohen Stellenwert in der umfassenden Betreuung der Patienten spielen
die Disziplinen Ernährungsberatung, Physiotherapie, Psychologie und Sozialarbeit.
Die Grundlagenforschung bezieht Mediziner, Biologen und Physiologen mit ein. Eine
optimale Betreuung von CF-Patienten sollte von spezialisierten Zentren übernommen
werden. Im vorliegenden Artikel wird der derzeitige Stand der Erforschung, medizinischen
Behandlung und Betreuung von Betroffenen der zystischen Fibrose zusammengefasst.
Cystic Fibrosis - A Multidisciplinary Challenge
Cystic fibrosis, one of the most common autosomal recessive diseases, poses a formidable
challenge to praetitioners in the clinical and scientific disciplines, in part due
to the complexity of the advances made in molecular biology and pathophysiology over
the past fifteen years. Patients with CF require a multidisciplinary medical team
including paediatricians, pulmonologists, gastroenterologists, surgeons, orthopedists,
gynaecologists and otolaryngologists. Comprehensive care of these patients also requires
input from nutritionists, physical therapists, psychologists and social workers. Basic
research in cystic fibrosis is promoted by clinicians, biologists and physiologists.
The care for patients with cystic fibrosis should be performed at specialised centres.
This article reviews the current state of research on CF and medical treatment and
psychosocial care of these patients.
Literatur
- 1
Boat T F, Welsh M J, Beaudet A L.
Cystic fibrosis. The metabolic basis of inherited diseases.
Cystic Fibrosis.
1989;
6
2649-2680
- 2
Anderson D H.
Cystic fibrosis of the pancreas and its relation to celiac disease. A clinical and
pathological study.
Am J Dis Children.
1938;
56
344-399
- 3
Davis P B, Drumm D M, Konstan M W.
Cystic Fibrosis.
Am J Respir Crit Care Med.
1996;
154
1229-1256
- 4
Quinton P M.
Chloride impermeability in cystic fibrosis.
Nature.
1983;
301
421-422
- 5
Gibson L E.
A test for concentration of electrolytes in cystic fibrosis of the pancreas utilizing
pilocarpine by iontophoresis.
Pediatrics.
1959;
23
545-552
- 6
Rommens J M, Iannuzzi M C, Kerem B-S. et al .
Identification of the cystic fibrosis gene: chromosome walking and jumping.
Science.
1989;
245
1059-1065
- 7
Kerem B-S, Rommens J M, Buchanan J A. et al .
Identification of the cystic fibrosis gene - Genetic analysis.
Science.
1989;
245
1073-1080
- 8
Riordan J R, Rommens J M, Kerem B-S. et al .
Identification of the cystic fibrosis gene: cloning and characterization of complementary
DNA.
Science.
1989;
245
1066-1072
- 9
Bear C E, Li C, Kartner N. et al .
Purification and functional reconstitution of the cystic fibrosis transmembrane conductance
regulator (CFTR).
Cell.
1992;
68
809-818
- 10
Anderson M P, Gregory R J, Thompson S. et al .
Demonstration that CFTR is a chloride channel by alteration of its anion selectivity.
Science.
1991;
253
202-205
- 11
Bradbury N A, Jilling T, Berta G. et al .
Regulation of plasma membrane recycling by CFTR.
Science.
1992;
256
530-532
- 12
Cheng P W, Boat T F, Cranfill K. et al .
Sulfation of glycoconjugates by cultured nasal epithelial cells from patients with
cystic fibrosis.
J Clin Invest.
1989;
84
68-72
- 13
Mills C L, Pereira M M, Dormer R L. et al .
Antibody against a CFTR-derived synthetic peptide, incorporated into living submandibular
cells inhibits beta-adrenergic stimulation of mucin secretion.
Biochemical And Biophysical Research Communications.
1992;
188
1146-1152
- 14
Barasch J, Kiss B, Prince A. et al .
Defective acidification of intracellular organelles in cystic fibrosis.
Nature.
1991;
352
70-73
- 15
Johnson L G, Boyles S E, Wilson J. et al .
Normalization of raised sodium absorption and raised calcium-mediated chloride secretion
by adenovirus-mediated expression of cystic fibrosis transmembrane conductance regulator
in primary human cystic fibrosis airway epithelial cells.
J Clin Invest.
1995;
95
1377-1382
- 16
Tabcharani J A, Rommens J M, Hou Y-X. et al .
Multi-ion pore behaviour in the CFTR chloride channel.
Nature.
1993;
366
79-82
- 17
Strong T V, Boehm K, Collins F S.
Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human
gastrointestinal tract by in situ hybridization.
Journal of Clinical Investigation.
1994;
93
347-354
- 18
Cohn J A, Strong T V, Picciotto M R. et al .
Localization of the cystic fibrosis transmembrane conductance regulator in human bile
duct epithelial cells.
Gastoenterology.
1993;
105
1857-1864
- 19
Engelhardt J F, Zepeda M, Cohn J A. et al .
Expression of the cystic fibrosis gene in adult human lung.
J Clin Invest.
1994;
93
737-749
- 20
Cheng S H, Gregory R J, Marshall J. et al .
Defective intracellular transport and processing of CFTR is the molecular basis of
most cystic fibrosis.
Cell.
1990;
63
827-834
- 21
Welsh M J, Smith A E.
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.
Cell.
1993;
73
1251-1254
- 22
McCray P B, Reenstra W W, Louie E. et al .
Expression of CFTR and presence of cAMP-mediated fluid secretion in human fetal lung.
Am J Physiol.
1992;
262
472-481
- 23
Armstrong D S, Grimwood K, Carlin J B. et al .
Lower airway inflammation in infants and young children with cystic fibrosis.
Am J Respir Crit Care Med.
1997;
156
1197-1204
- 24
Khan T Z, Wagener J S, Bost T. et al .
Early pulmonary inflammation infants with cystic fibrosis.
Am J Respir Crit Care Med.
1995;
151
1075-1082
- 25
Bedrossian C WM, Greenberg S D, Singer D B. et al .
The lung in cystic fibrosis. A quantitative study including prevalence of pathologic
findings among different age groups.
Hum Pathol.
1976;
7
195-204
- 26
di Sant'Agnese P A, Davis P B.
Cystic fibrosis in adults: 75 cases and a review of 232 cases in the literature.
Am J Med.
1979;
66
121-132
- 27
Bout T F, di Sant'Agnese P, Warwick W J. et al .
Pneumothorax in cystic fibrosis.
J Am Med Assoc.
1969;
209
1498-1504
- 28
Fellows K E, Stigol L, Schuster S.
Selective bronchial arteriography in patients with cystic fibrosis and massive haemoptysis.
Radiology.
1975;
114
551-555
- 29
Wood R E.
Haemoptisis in cystic fibrosis.
Pediatric Pulmonology.
1992;
8
82-84
- 30
Brinson G M, Noone P G, Mauro M A. et al .
Bronchial artery embolization for the treatment of hemoptysis in patients with cystic
fibrosis.
Am J Respir Crit Care Med.
1998;
157
1951-1958
- 31
Cipolli M, Perini S, Valletta E A. et al .
Bronchial artery embolization in the management of hemoptysis in cystic fibrosis.
Pediatr Pulmonol.
1995;
19
344-347
- 32
Knutsen A P, Slavin R G.
Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis.
Clinical Reviews in Allergy.
1991;
9
103-118
- 33
Mroueh S, Spock A.
Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis.
Chest.
1994;
105
32-36
- 34
Denning D W, van Wye J E, Lewiston N J. et al .
Adjunctive therapy of allergic bronchopulmonary aspergillosis with itraconazole.
Chest.
1991;
100
813-819
- 35
Penketh A R, Wise A, Mearns M B. et al .
Cystic fibrosis in adolescents and adults.
Thorax.
1987;
42
526-532
- 36
Spino M.
Pharmacokinetics of drugs in cystic fibrosis.
Clinical Reviews in Allergy.
1991;
9
169-210
- 37
Gappa M, Steinkamp G, Tümmler B. et al .
Long-term tobramycin aerosol therapy of chronic pseudomonas aeruginosa infection in
patients with cystic fibrosis.
Scand J Gastroenterol.
1988;
143, Suppl
74-76
- 38
Bargon J, Viel K, Dauletbaev N. et al .
Short-term effects of regular salmeterol treatment on adult cystic fibrosis patients.
Eur Respir J.
1997;
10
2307-2311
- 39
Laursen E M, Molgaard C, Michaelsen K F. et al .
Bone mineral status in 134 patients with cystic fibrosis.
Arch Dis Child.
1999;
81
235-240
- 40
Stern R C, Boat T F, Wood R E. et al .
Treatment and prognosis of nasal polyps in cystic fibrosis.
Am J Dis Children.
1982;
136
1067-1070
- 41
Edinborough F P, Stableforth D E, Webb A K. et al .
Outcome of pregnancy in women with cystic fibrosis.
Thorax.
1995;
50
170-174
PD Dr. Joachim Bargon
Dr. Jens Rickmann
Med. Klinik II
Schwerpunkt Pneumologie/Allergologie
Universitätsklinik Frankfurt
Theodor-Stern-Kai 7
60590 Frankfurt
