Patienten mit zystischer Fibrose werden erwachsen View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-01

AUTHORS

Patience Eschenhagen, Carsten Schwarz

ABSTRACT

Mucoviscidosis or cystic fibrosis (CF) is one of the most frequent monogenetic diseases in middle Europe. It is inherited in an autosomal recessive manner. A defect in the cystic fibrosis transmembrane conductance regulator (CFTR) channel reduces chloride ion transport to the cell membrane, which leads to malfunctions in all exocrine glands. This results in a progressive multiorgan disease, which leads to chronic inflammation and infections of the lungs. The progressive destruction of lung tissue with respiratory insufficiency is the most common cause of death in CF. Progress in symptomatic treatment over the past decades has led to a dramatic improvement in life expectation and quality of life for those affected, so that nowadays in nearly all industrial countries the majority of patients are adults. In 2012 the era of causal therapy of the CFTR protein defects was opened with the approval of ivacaftor. Long-term data now confirm the benefits. There is reason to hope that the success story of CF treatment will be continued, particularly by further CFTR modulators with innovative modes of action and improved efficacy; however, so far these are not available for all mutation classes, so that not all patients can reap the benefits. Therefore, the further development of symptomatic treatment becomes of great importance due to the complications that have already occurred before the implementation of the CFTR modulators. The implementation of modulators in early childhood can attenuate or prevent early irreversible complications. Therefore, in this article special emphasis is placed on new developments in symptomatic treatment and on new treatment options. More... »

PAGES

1-11

References to SciGraph publications

  • 2015-01. Cystic fibrosis genetics: from molecular understanding to clinical application in NATURE REVIEWS GENETICS
  • 2018-02. Progress in Definition, Prevention and Treatment of Fungal Infections in Cystic Fibrosis in MYCOPATHOLOGIA
  • 2012-04. Erwachsene mit Mukoviszidose in BUNDESGESUNDHEITSBLATT - GESUNDHEITSFORSCHUNG - GESUNDHEITSSCHUTZ
  • 2017-01. From the endoplasmic reticulum to the plasma membrane: mechanisms of CFTR folding and trafficking in CELLULAR AND MOLECULAR LIFE SCIENCES
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    http://scigraph.springernature.com/pub.10.1007/s00108-018-0536-9

    DOI

    http://dx.doi.org/10.1007/s00108-018-0536-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1111310677

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30627755


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