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Zystische Fibrose und ihre Komplikationen

Cystic fibrosis and associated complications

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Zusammenfassung

Die zystische Fibrose (CF) – auch Mukoviszidose genannt – ist eine autosomal-rezessiv vererbte Stoffwechselkrankheit. Die Mutation befindet sich auf dem langen Arm von Chromosom 7. Durch einen Defekt im Cystic-fibrosis-transmembrane-conductance-regulator(CFTR)-Gen ist der Chloridionentransport an der Zellmembran verringert. In der Folge lässt sich ein Krankheitsbild beschreiben, dass auch als Exokrinopathie bezeichnet werden kann. In allen Organen mit exokrinen Drüsen treten Störungen im Zusammenhang mit dem defekten Chloridtransport auf. Am stärksten betroffen ist die Lunge. Die häufigste Todesursache ist demnach auch die pulmonale Erkrankung mit einer respiratorischen Insuffizienz auf dem Boden der rezidivierenden Infekte. Die Erkrankung ist bis heute nicht heilbar. Neue Therapien, die mutationsspezifisch CFTR beeinflussen, geben aber Anlass zu neuer Hoffnung. Langfristig soll für jede der 6 Mutationsklassen und damit für etwa 2000 Mutationen eine kausale Therapie entwickelt werden.

Abstract

Cystic fibrosis (CF) is an autosomal recessive inherited metabolic disease. The mutation is located on the long arm of chromosome 7. Due to a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, chloride ion transport is reduced across the cell membrane. As a result, the disease can be described as an exocrinopathy. In all organs with exocrine glands, disorders occur in association with the defective chloride transport. The main impact of this defect is manifested in the lungs. Therefore, the most common cause of death is pulmonary disease with respiratory insufficiency due to recurrent infections. Unfortunately, a cure for the disease is still not available. However, new therapies that may affect the CFTR mutation more specifically give new hope for better therapeutic options in the future. The long-term goal of therapy is to develop a causal therapy for all six different mutation classes and thus for about 2000 mutations.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. C. Schwarz und D. Staab haben von Forest, Gilead, Novartis, Pharmaxis und Vertex Honorare für Berater- und Vortragstätigkeiten erhalten.

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Authors and Affiliations

  1. Christiane Herzog-Zentrum, Sektion Cystische Fibrose, Klinik für Pädiatrie m. S. Pneumologie und Immunologie, Charité Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Deutschland

    C. Schwarz & D. Staab

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  1. C. Schwarz
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  2. D. Staab
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Correspondence to C. Schwarz.

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Schwarz, C., Staab, D. Zystische Fibrose und ihre Komplikationen. Internist 56, 263–274 (2015). https://doi.org/10.1007/s00108-014-3646-z

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