Skip to main content

Zystische Fibrose

  • Chapter
  • 4489 Accesses

Zusammenfassung

The first trial of ether in France antedated use of the agent in England. During the next few years, France’s Académie des Sciences examined the claims for the discovery of anesthesia, finally according it jointly to Morton and Jackson. By 1848, chloroform displaced ether despite inexplicable fatalities associated with its use. In 1908, ether spectacularly returned with the introduction of the Ombrédanne inhaler, remaining popular in France to the 1960s.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   189.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

Genetik

  • Alfonso-Sanchez MA, Perez-Miranda AM, Garcia-Obregon S, Pena JA. An evolutionary approach to the high frequency of the Delta F508 CFTR mutation in European populations. Med Hypotheses 2010; 74: 989–992

    Article  PubMed  Google Scholar 

  • Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic Fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575–606

    Article  PubMed  Google Scholar 

  • Bombieri C, Claustres M, De Boeck K et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011; 10 Suppl 2: S86–S102

    Google Scholar 

  • Dequeker E, Stuhrmann M, Morris MA et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations. Eur J Hum Genet 2009; 17: 51–65

    Article  PubMed  Google Scholar 

  • Eckford PDW, Li C, Ramjeesingh M, Bear CE. Cystic fibrosis transmembrane conductance regulator (CFTR) potentiator VX-770 (ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation- dependent but ATP-independent manner. J Biol Chem 2012; 287: 36639–36649

    Article  PubMed  Google Scholar 

  • Farrell PM, Rosenstein BJ, White TB et al., Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report. J Pediatr 2008; 153: S4–S14

    Article  PubMed Central  PubMed  Google Scholar 

  • Geborek A, Hjelte L. Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations. J Cyst Fibros 2011; 10: 187–192

    Article  PubMed  Google Scholar 

  • Guggino WB, Stanton BA. New insights into cystic fibrosis: molecular switches that regulate CFTR. Nat Rev Mol Cell Biol 2006; 7: 426–436

    Article  PubMed  Google Scholar 

  • Riordan JR, Rommens JM, Kerem BS et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066–1072

    Article  Google Scholar 

  • Rohlfs EM, Zhou Z, Heim RA et al. Cystic fibrosis carrier testing in an ethnically diverse US population. Clin Chem 2011; 57: 841–848

    Article  PubMed  Google Scholar 

Pathophysiologie Diagnostik

  • AWMF-Leitlinie Diagnose der Mukoviszidose (im Druck)

    Google Scholar 

  • Bombieri C, Claustres M, De Boeck K et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011; 10 (Suppl 2): S86–102

    PubMed  Google Scholar 

  • Budd JR, Warwick WJ, Wielinski CL, Finkelstein SM: A medical Information Relational Database System (MIRDS). Computers and Biomedical Research 1988;21:419–433

    Article  PubMed  Google Scholar 

  • Castellani C, Cuppens H, Macek M, Jr. et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008; 7: 179–96

    Article  PubMed  Google Scholar 

  • Chrispin AR, Norman AP. The systematic evaluation of the chest radiograph in cystic fibrosis. Pediatr Radiol 1974; 2: 101–106

    Article  Google Scholar 

  • De Boeck K, Derichs, Fajac I et al. ECFS Diagnostic Network Working Group. New clinical diagnostic procedures for cystic fibrosis in Europe. J Cyst Fibros 2011; 10 (Suppl 2): S53–66

    PubMed  Google Scholar 

  • De Boeck K, Wilschanski, Castellani C et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006; 61: 627–35

    Article  PubMed  Google Scholar 

  • Dequeker E, Stuhrmann M, Morris MA et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations. Eur J Hum Genet 2009; 17: 51–65

    Article  PubMed  Google Scholar 

  • Directive 95/46/EC of the European Parliament and Council http:// www.dataprivacy.ie/docs/EU_Directive_95/46/EC__Chapt er_1/92.htm

    Google Scholar 

  • EuroCareCF; http://www.eurocarecf.eu/

    Google Scholar 

  • European Cystic Fibrosis Registry Report on 2003 data; Eitan Kerem et al, 2006, ECFS http://www.ecfsoc.org/ECFRegistry/ECFR_annual_report_2003_ Final.pdf

    Google Scholar 

  • Guidelines for the European Cystic Fibrosis Registry (ECFR) http:// www.ecfsoc.org/ECFRegistry/Guidelines_for_ECFR.pdf

    Google Scholar 

  • Hafen GM, Ranganathan SC, Robertson CF, Robinson PJ. Clinical scoring systems in cystic fibrosis. Review. Pediatr Pulmonol. 2006; 41: 602–17

    PubMed  Google Scholar 

  • Mayell SJ, Munck A, Craig JV et al. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009; 8: 71–8

    Article  PubMed  Google Scholar 

  • Shwachman H, Kulczycki LL. Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteenyear period. Am J Dis Child 1958; 96: 6–15

    Article  Google Scholar 

  • Torresani T, Fingerhut R, Rueegg CS et al. The Swiss CF Screening Group. Newborn screening for cystic fibrosis in Switzerland - Consequences after analysis of a 4 months pilot study. J Cyst Fibros. 2013. DOI: pii: S1569-1993(13)00067-2. 10.1016/j.jcf.2013.04.008.

    Google Scholar 

  • www.cff.org/LivingWithCF/CareCenterNetwork/PatientRegistry/

    Google Scholar 

  • www.cftr2.org

    Google Scholar 

  • www.cysticfibrosis.ca/en/aboutCysticFibrosis/CfStatistics.php

    Google Scholar 

  • www.ecfs.eu/

    Google Scholar 

  • www.ecfs.eu/ecfs_dnwg

    Google Scholar 

  • www.ecfs.eu/projects/ecfs-patient-registry/project

    Google Scholar 

  • www.researchportal.be/en/project/-(VUB_24533)/

    Google Scholar 

  • www.touchrespiratory.com/articles/setting-european-registry-cystic- fibrosis-lessons-learned

    Google Scholar 

Mikrobiologie

  • Döring G, Gulbins E. Cystic fibrosis and innate immunity: how chloride channel mutations provoke lung disease. Cell Microbiol 2009; 11: 208–216

    Article  PubMed  Google Scholar 

  • Zemanick ET, Sagel SD, Harris JK. The airway microbiome in cystic fibrosis and implications for treatment. Curr Opin Pediatr 2011; 23: 319–24

    Article  PubMed  Google Scholar 

  • Goss CH, Muhlebach MS. Staphylococcus aureus and MRSA in cystic fibrosis. J Cyst Fibros 2011; 10: 298–306

    Article  PubMed  Google Scholar 

  • Tümmler B. Clonal variations of Pseudomonas aeruginosa. In: Ramos JL, Levesque RC (Hrsg.) Pseudomonas. Vol. 4. Springer, New York, 2006: 35–68

    Google Scholar 

  • Lynch JP 3rd. Burkholderia cepacia complex: impact on the cystic fibrosis lung lesion. Semin Respir Crit Care Med 2009; 30: 596–610

    Google Scholar 

  • Waters V, Atenafu EG, Salazar JG et al. Chronic Stenotrophomonas maltophilia infection and exacerbation outcomes in cystic fibrosis. J Cyst Fibros 2012; 11: 8–13

    Article  PubMed  Google Scholar 

  • Esther CR Jr, Esserman DA, Gilligan P, Kerr A, Noone PG. Chronic Mycobacterium abscessus infection and lung function decline in cystic fibrosis. J Cyst Fibros 2010; 9: 117–123

    Article  PubMed  Google Scholar 

  • Luong ML, Morrissey O, Husain S. Assessment of infection risks prior to lung transplantation. Curr Opin Infect Dis 2010; 23: 578–583

    Article  PubMed  Google Scholar 

  • Wiehlmann L, Cramer N, Ulrich J, Hedtfeld S, Weißbrodt H, Tümmler B. Effective prevention of Pseudomonas aeruginosa cross-infection at a cystic fibrosis centre - Results of a 10-year prospective study. Int J Med Microbiol 2012; 302: 69–77

    Article  PubMed  Google Scholar 

  • Ballmann M, Smaczny C. CF Manual. UNI-MED, Bremen 2008

    Google Scholar 

Klinisches Management

  • Accurso FJ, Rowe SM, Clancy JP et al. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med 2010; 363(21): 1991–2003

    Article  PubMed Central  PubMed  Google Scholar 

  • Agarwal R. Allergic bronchopulmonary aspergillosis. Chest 2009; 135(3): 805–26

    Article  PubMed  Google Scholar 

  • Almajed A, Lands LC. The evolution of exercise capacity and its limiting factors in Cystic Fibrosis. Paediatr Respir Rew. 2012; 13: 195–9

    Google Scholar 

  • American Thoracic Society. ATS Statement: Guidelines for the Six- Minute Walk Test. Am J Respir Crit Care Med 2002; 166: 111–117

    Google Scholar 

  • Anthony H, Collins CE, Davidson G et al. Pancreatic enzyme replacement therapy in cystic fibrosis. Australian guidelines. Pediatric Gastroenterological Society and the Dietians association of Australia. J. Paediatr. Child Health 1999; 35(2): 125–9

    Article  PubMed  Google Scholar 

  • Balfour-Lynn I, Elborn J. »CF asthma«: what is it and what do we do about it? Thorax 2002; 57(8): 742–749

    Article  Google Scholar 

  • Ballmann M, Smaczny C. Distales intestinales Obstruktionssyndrom. In: CF Manual. UNI-MED Verlag AG, Bremen, 2008: 93–94

    Google Scholar 

  • Botton E, Saraux A, Laselve H, Jousse S, Le Goff P. Musculoskeletal manifestations in cystic fibrosis. Joint Bone Spine 2003; 70(5): 327-35. Review

    Google Scholar 

  • Braithwaite M, Philip J, Tranberg H, Finlayson F, Gold M, Kotsimbos T, Wilson J. End-of-life care on CF: patients, families and staff experiences and unmet needs. J Cyst Fibros 2001; 10: 253–257

    Google Scholar 

  • Canadian Cystic Fibrosis Patient Data Registry Report, 2010, http:// www.cysticfibrosis.ca/assets/files/pdf/CPDR_ReportE.pdf

    Google Scholar 

  • CF Foundation: Patient registry annual report 2010. Bethesda, MD: Cystic Fibrosis Foundation; 2010. http://www.cff.org/LivingWith- CF/QualityImprovement/PatientRegistryReport/

    Google Scholar 

  • Chrispin A, Norman A. The systematic evaluation of the chest radiograph in cystic fibrosis. Pediat. Radiol 1974; 2: 101–106

    Google Scholar 

  • Coates AJ, Cfofton PM, Marshall T. Evaluation of salt supplementation in CF infants. Journal of Cystic fibrosis 2009; 8: 382–385

    Google Scholar 

  • Cohen-Cymberknoh M, Shoseyov D, Kerem E. Managing cystic fibrosis: Strategies that increase life expectancy and improve quality of life. Am J Respir Crit Care Med 2011; 183: 1463–1471

    Article  PubMed  Google Scholar 

  • Colombo C, Ellemunter H, Houwen R, Munck A, Taylor C, Wilaschanski M. Guidelines for the diagnosis and management of distal intestinal obstruction syndrome in cystic fibrosis patients. J of Cysttic Fibrosis 2011; 10: 24–28

    Google Scholar 

  • Colombo C, Littlewood J. The implementation of standards of care in Europe: state of the art. J Cyst Fibros 2011; 10 Suppl 2: S7–15. Review

    Google Scholar 

  • Conwell LS, Chang AB. Bisphosphonates for osteoporosis in people with cystic fibrosis. Cochrane Database Syst Rev 2012; 4: CD002010. Review

    Google Scholar 

  • Cooper P, MacLean J. High-resolution computed tomography (HRCT) should not be considered as a routine assessment method in cystic fibrosis lung disease. Paediatric Respiratory Reviews 2006; 7(3): 197–201

    Article  PubMed  Google Scholar 

  • Debray D, Kelly D, Houwen R, Strandvik B, Colombo C (2011) Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. J Cyst Fibros 2011; 10 (Suppl 2): S29–36

    PubMed  Google Scholar 

  • Dodge JA, Lewis PA, Stanton M, Wilsher J. Cystic fibrosis mortality and survival in the uk: 1947- 2003. Eur Respir J 2007; 29: 522–526

    Article  PubMed  Google Scholar 

  • Edenborough FP, Borgo G, Knoop C et al. Guidelines for the management of pregnancy in women with cystic fibrosis. Journal of Cystic Fibrosis 7 (2008) S2-S32 (http://www.ecfs.eu/ecfs_guidelines)

    Google Scholar 

  • Eichinger M, Heussel C, Kauczor H, Tiddens H, M P. Computed tomography and magnetic resonance imaging in cystic fibrosis lung disease. J Magn Reson Imaging 2010; 32: 1370–1378

    Article  PubMed  Google Scholar 

  • Elborn JS, Hodson M, Bertram C. Implementation of European standards of care for cystic fibrosis - provision of care. J Cyst Fibros 2009; 8(5): 348–55

    Article  PubMed  Google Scholar 

  • Flume PA, Liou TG, Borowitz DS et al. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest 2012; 142(3): 718–724

    Article  PubMed  Google Scholar 

  • Flume PA, Mogayzel Jr, PJ, Robinson KA, Rosenblatt RL, Quittell L, Marshall BC, Clinical Practice Guidelines For Pulmonary Therapies Committee. Cystic Fibrosis Pulmonary Guidelines: Pulmonary Complications: Hemoptysis and Pneumothorax. American journal of respiratory and critical care medicine 2010; 182: 298–306

    Google Scholar 

  • Flume PA, Mogayzel PJ, Robinson K et al. Cystic fibrosis pulmonary guidelines: treatment of pulmonary exacerbations. American journal of respiratory and critical care medicine 2009; 180(9): 802–8

    Article  PubMed  Google Scholar 

  • Flume PA. Pneumothorax in cystic fibrosis. Curr Opin Pulm Med 2011; 17(4): 220–5

    Article  PubMed  Google Scholar 

  • Goss CH, Burns JL. Exacerbations in cystic fibrosis. 1: Epidemiology and pathogenesis. Thorax 2007; 62(4): 360–7

    Article  PubMed  Google Scholar 

  • Gustafsson P, De Jong P, Tiddens H, Lindblad A. Multiple-breath inert gas washout and spirometry versus structural lung disease in cystic fibrosis. Thorax 2008; 63: 129–134

    PubMed  Google Scholar 

  • Javier RM, Jacquot J. Bone disease in cystic fibrosis: what's new? Joint Bone Spine. 2011; 78(5): 445–50

    Article  PubMed  Google Scholar 

  • Kerem E, Conway S, Elborn S, Heijerman H. Standards of care for patients with cystic fibrosis: a European consensus. Journal of Cystic Fibrosis 2005; 4(1): 7–26

    Article  PubMed  Google Scholar 

  • Knutsen AP, Bush RK, Demain JG et al. Fungi and allergic lower respiratory tract diseases. The Journal of allergy and clinical immunology 2012; 129(2): 280–91

    Google Scholar 

  • Koletzko S, Stringer D, Cleghorn GJ, Durie P. Lavage treatment of distal intestinal obstruction syndrom in children with cystic fibrosis. Pediatrics 1993; 83: 727–733

    Google Scholar 

  • Kommission für Krankenhaushygiene und Infektionsprvention beim Robert Koch Institut. Anforderungen an die Hygiene bei der medizinischen Versorgung von Patienten mit Cystischer Fibrose (Mukoviszidose). 2012. http://www.rki.de/DE/Content/Infekt/ Krankenhaushygiene/Kommission/Downloads/Mukoviszidose_ AG.pdf

    Google Scholar 

  • Milla CE. Association of nutritional status and pulmonary function in children with cystic fibrosis. Curr Opin Pulm Med 2004; 10: 505–509

    Article  PubMed  Google Scholar 

  • Mitteilung der Stndigen Impfkommission am Robert Koch-Institut (RKI). Empfehlungen der Stndigen Impfkommission (STIKO) am Robert Koch-Institut / Stand: Juli 2012. Epidemiologisches Bulletin 2012; 30/2012

    Google Scholar 

  • Moran A, Brunzell C, Cohen RC et al. CFRD Guidelines Committee. Clinical care guidelines for cystic fibrosis-related diabetes: a position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society. Diabetes Care 2010; 33: 2697–2708

    PubMed  Google Scholar 

  • Moss RB. Allergic bronchopulmonary aspergillosis and Aspergillus infection in cystic fibrosis. Curr Opin Pulm Med 2010; 16(6): 598–603

    Article  PubMed  Google Scholar 

  • Niemann N, Wenzlaff P, Stern M. [Benchmarking to evaluate the care of patients with cystic fibrosis: an established tool to improve patient care]. Z Evid Fortbild Qual Gesundhwes. 2011; 105(5): 354–9

    Article  PubMed  Google Scholar 

  • Orens JB, Estenne M, Arcasoy S et al. International Guidelines for the Selection of Lung Transplant Candidates: 2006 Update - A Consensus Report From the Pulmonary Scientific Council of the International Society for Heart and Lung Transplantation. The Journal of Heart and Lung Transplantation 2006; 25(7): 745–755

    Google Scholar 

  • Quittner AL, Schechter MS, Rasouliyan L et al. Impact of socioeconomic status, race, and ethnicity on quality of life in patients with cystic fibrosis in the United States. Chest 2010; 137: 642–650

    Article  PubMed  Google Scholar 

  • Ranganathan S, Linnane B, Nolan G, Gangell C, Hall G. Early Detection of Lung Disease in Children with Cystic Fibrosis Using Lung Function. Paediatric Respiratory Reviews 2008; 9(3): 160–167

    Article  PubMed  Google Scholar 

  • Robertson JM, Friedman EM, Rubin BK. Nasal and sinus disease in cystic fibrosis. Paediatric respiratory reviews 2008; 9(3): 213–9

    Google Scholar 

  • Robinson WM. Palliative and end-of-life care in cystic fibrosis: what we know and what we need to know. Curr Opin Pulm Med 2009; 15: 621–625

    Article  PubMed  Google Scholar 

  • Sands D, Repetto T, Dupont LJ, Korzeniewska-Eksterowicz A, Catatstini

    Google Scholar 

  • P, Madge S. End of life care for patients with cystic fibrosis. J Cyst Fibros 2011; 10 (Suppl 2): S37–44

    Google Scholar 

  • Sawicki GS, Dill EJ, Asher D et al. Advanced care planning in adults with cystic fibrosis. J Palliat Med. 12008; 1: 1135–1141

    Google Scholar 

  • Schönfelder A. Fett for Life, Fischer Druck GmbH 2003; ISBN 3-00- 016926–1

    Google Scholar 

  • Sens B, Stern M. Qualittssicherungsverfahren Mukoviszidose. Überblick über den Gesundheitszustand der Patienten in Deutschland 2010, Hippocampus, Bad Honnef 2011, S. 21

    Google Scholar 

  • Shwachman H, Kulczycki L. Long term study of one hundred five patients with cystic fibrosis. Am J Dis Child 1958; 96: 6–15

    Article  Google Scholar 

  • Sinaasappel M, Stern M, Littlewood J et al. Nutrition in patients with cystic fibrosis: A European Consensus. J Cyst Fibros 2002; 1: 51–75

    Article  PubMed  Google Scholar 

  • Steinkamp G, Wiedemann B. Relationship between nutritional status and lung function in cystic fibrosis. Cross sectional and longitudinal analyses from the german CF quality assurance (CFQA) project. Thorax 2002; 57(7): 596–601

    Article  PubMed  Google Scholar 

  • Stern M, Ellemunter H, Palm B, Posselt HG, Smaczny C. Leitlinie Mukoviszidose- Ernhrung und exokrine Pankreasinsuffizienz. Gesellschaft für Pädiatrische Gastroenterologie und Ernhrung (GPGE). 2011; 1–18

    Google Scholar 

  • Stern M, Wiedemann B, Wenzlaff P. From registry to quality management: the German Cystic Fibrosis Quality Assessment project 1995-2006. Eur Respir J 2008; 31: 29–35

    Article  PubMed  Google Scholar 

  • Stevens DA, Moss RB, Kurup VP et al. Allergic bronchopulmonary aspergillosis in cystic fibrosis–state of the art: Cystic Fibrosis Foundation Consensus Conference. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 203; 37 (Suppl 3): S225–64

    Google Scholar 

  • Thornton J, Rangaraj S. Anti-inflammatory drugs and analgesics for managing symptoms in people with cystic fibrosis-related arthritis. Cochrane Database Syst Rev 2012; 3: CD006838. Review

    Google Scholar 

  • Wilkes DL, Schneiderman JE, Nguyen T et al. Exercise and physical activity in children with cystic fibrosis. Paediatr Respir Rev 2009; 10: 105–1099

    Article  Google Scholar 

  • Yu H, Burton B, Huang CJ et al. Ivacaftor potentiation of multiple CFTR channels with gating mutations. J Cyst Fibros 2012; 11(3): 237–245

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Gallati, S. et al. (2013). Zystische Fibrose. In: von Mutius, E., Gappa, M., Eber, E., Frey, U. (eds) Pädiatrische Pneumologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-34827-3_28

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-34827-3_28

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-34826-6

  • Online ISBN: 978-3-642-34827-3

  • eBook Packages: Medicine (German Language)

Publish with us

Policies and ethics