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Klin Padiatr 2013; 225(05): 288-289
DOI: 10.1055/s-0033-1343480
DOI: 10.1055/s-0033-1343480
Short Communication
A Patient Nicknamed ‘Saline’: Atypical Course with Cystic Fibrosis
Spitzname ‚Die Saline‘ – atypischer Verlauf einer MukoviszidoseWeitere Informationen
Publikationsverlauf
Publikationsdatum:
10. September 2013 (online)
![](https://www.thieme-connect.de/media/klinpaed/201305/lookinside/thumbnails/10.1055-s-0033-1343480-1.jpg)
Background
Despite being the most common life threatening genetic disease in Caucasians, delayed diagnosis in cystic fibrosis (CF) is not uncommon and associated with negative consequences on quality of life and outcome. Our patient with the rare F508del/Q237H mutation suffered from CF symptoms since childhood and had undergone a series of medical contacts and treatments until he diagnosed himself by chance.