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Notfälle bei erwachsenen Mukoviszidosepatienten

Emergencies in adult mucoviscidosis patients

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Zusammenfassung

Die Mukoviszidose ist eine autosomal-rezessiv vererbte Stoffwechselerkrankung. Sie beruht auf einer Störung des CFTR-Gens, die zu einem Defekt der Chloridkanäle auf Epithelzellmembranen führt und vielfältige Störungen im Respirations-, Gastrointestinal- und Urogenitaltrakt zur Folge hat.

In allen exokrinen Drüsen kommt es zur Bildung von zähem Sekret, was pulmonal mit chronischem Husten, einer Sekretretention, rezidivierenden Infekten sowie der Ausbildung von Bronchiektasen und einem obstruktiven Lungenemphysem einhergeht. Gastrointestinal kommt es zu einer exokrinen und häufig auch endokrinen Pankreasinsuffizienz mit chronischen Diarrhöen und Maldigestionssyndrom sowie pankreatoprivem Diabetes mellitus; in 10% der Fälle entwickelt sich eine biliäre Zirrhose. Zudem besteht eine verminderte Fertilität bei Frauen und Infertilität bei nahezu allen Männern.

Zu den lebensgefährlichen Komplikationen gehören Blutungen aus dem Bereich der Bronchialarterien, der Pneumothorax sowie das distale intestinale Obstruktionssyndrom als Äquivalent des Mekoniumileus. Die Behandlung bedarf einer raschen Diagnostik und sollte in erfahrenen Zentren erfolgen, da die Letalitätsrate sonst bis zu 50% betragen kann.

Abstract

Cystic fibrosis is an inherited autosomal recessive metabolic disease caused by mutations on the CFTR gene. This leads to defective chloride channels on epithelial cell membranes and causes various disorders of the respiratory, gastrointestinal, and urogenital tracts.

As a result, all exocrine glands produce a viscous secretion, leading to pulmonary symptoms such as chronic cough, secretion retention, recurring infections as well as bronchiectasis and obstructive lung emphysema. Gastrointestinal effects include exocrine and often also endocrine pancreatic insufficiency with chronic diarrhea and maldigestion syndrome as well as pancreoprivic diabetes mellitus; biliary cirrhosis occurs in 10% of cases. Additional effects include reduced fertility in women and infertility in men.

Life-threatening complications include bleeding from the bronchial arteries, pneumothorax, and distal intestinal obstruction syndrome (DIOS), previously known as meconium ileus equivalent. Treatment requires rapid diagnosis and should be carried out in experienced centres, since the mortality rate can otherwise be up to 50%.

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Smaczny, C., Born, T. & Wagner, T. Notfälle bei erwachsenen Mukoviszidosepatienten. Internist 53, 575–584 (2012). https://doi.org/10.1007/s00108-012-3019-4

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