Snapshot A 3-year-old boy presents to his pediatrician for fever and a cough. He has a history of recurrent pneumonia and chronic diarrhea. His mother states that he has 6-8 foul smelling stools per day. His temperature is 101.0°F (38.3°C), blood pressure is 95/55 mmHg, pulse is 120/min, and respirations are 28/min. Physical exam is notable for scattered rhonchi in the bilateral lung fields with hepatomegaly. Sweat chloride testing is elevated on 2 separate occasions. Introduction Definition login to view 1 more bullet An autosomal recessive mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a chloride channel, on chromosome 7 Epidemiology Incidence login to view 2 more bullets Etiology Pathogenesis login to view 7 more bullets Associated conditions login to view 3 more bullets Presentation Symptoms login to view 15 more bullets Physical exam login to view 10 more bullets DIAGNOSIS Making the diagnosis is based on login to view 7 more bullets Treatment Conservative login to view 12 more bullets Medical login to view 6 more bullets Complications Bronchopulmonary login to view 2 more bullets Gastrointestinal login to view 5 more bullets Hepatobiliary login to view 1 more bullet Endocrine login to view 3 more bullets Prognosis Most of the morbidity and mortality associated with this condition is secondary to pulmonary disease