A Patient Nicknamed ‘Saline’: Atypical Course with Cystic Fibrosis

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.