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Die Radiologie
Erschienen in: Die Radiologie 9/2020

10.08.2020 | Neugeborenenscreening | Leitthema

Abdominelle Manifestationen bei Mukoviszidose

Klinische Übersicht

verfasst von: PD Dr. med. Olaf Sommerburg, Jens-Peter Schenk

Erschienen in: Die Radiologie | Ausgabe 9/2020

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Zusammenfassung

Die Mukoviszidose (zystische Fibrose, CF) ist die häufigste tödliche autosomal-rezessive Erkrankung in der kaukasischen Bevölkerung. Eine Mutation im Cystic-Fibrosis-Transmembrane-Conductance-Regulator(CFTR)-Gen dieser Patienten führt zur Produktion von abnorm zähflüssigem Schleim und Sekreten in der Lunge. Eine ähnliche Pathologie tritt auch in anderen Organsystemen auf. Im Abdomen sind u. a. der Magen-Darm-Trakt, das Pankreas und das hepatobiliäre System betroffen. Die Beteiligung des Pankreas führt zu dessen exokriner und endokriner Insuffizienz. Zu den hepatischen Manifestationen gehören die hepatische Steatose, die fokale biliäre und multilobuläre Zirrhose und die portale Hypertension. Zu den biliären Komplikationen gehören Cholezystolithiasis, Mikro-Gallenblase und sklerosierende Cholangitis. Im Verdauungstrakt kann es zu Komplikationen wie dem distalen intestinalen Obstruktionssyndrom, Invaginationen, chronischer Obstipation und Wandverdickungen sowie Fibrosen im Kolon kommen. Bei den renalen Manifestationen steht die Nephrolithiasis im Vordergrund. Bei der derzeit rasant steigenden Lebenserwartung von CF-Patienten könnten Komplikationen von extrapulmonalen Manifestationen einschließlich hepatischer und gastrointestinaler Malignität eine zunehmende Ursache für die Morbidität und Mortalität dieser Patienten werden. Es ist daher auch für den Radiologen wichtig, diese Krankheitsbilder zu kennen und ihre Ausprägung im Verlauf zu beurteilen. Die bisherige Therapie der extrapulmonalen Manifestationen war größtenteils symptomatisch. Erfreulicherweise scheinen die neuen CFTR-Modulatoren auch hier einen wirksamen kausalen Therapieansatz darzustellen.
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Metadaten
Titel
Abdominelle Manifestationen bei Mukoviszidose
Klinische Übersicht
verfasst von
PD Dr. med. Olaf Sommerburg
Jens-Peter Schenk
Publikationsdatum
10.08.2020
Verlag
Springer Medizin
Erschienen in
Die Radiologie / Ausgabe 9/2020
Print ISSN: 2731-7048
Elektronische ISSN: 2731-7056
DOI
https://doi.org/10.1007/s00117-020-00729-8

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