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Cystic fibrosis
Background
Overview
Definition
CF is an inherited multiorgan disease characterized by recurrent cough, wheeze, and pneumonia, sinusitis, and male infertility.
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Pathophysiology
CF is caused by a mutation in the CFTR gene.
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Disease course
Genetic mutations in CFTR gene result in CF, which causes clinical manifestations of recurrent respiratory symptoms of cough, wheeze, and pneumonias, nasal polyps, sinusitis, finger clubbing, male infertility, EPI (steatorrhea, diarrhea, abdominal distension, poor growth in infants, pancreatitis), GERD, meconium ileus, distal intestinal obstruction syndrome, celiac disease, malabsorption, Crohn's disease, constipation, rectal prolapse, fatty liver, cirrhosis, diabetes, osteopenia, acute collapse, vaginal candidiasis, and stress incontinence. Disease progression may lead to death.
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Prognosis and risk of recurrence
The in-hospital mortality of CF is 0.71%.
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Guidelines
Key sources
The following summarized guidelines for the evaluation and management of cystic fibrosis are prepared by our editorial team based on guidelines from the American Diabetes Association (ADA 2025), the International Society for Heart and Lung Transplantation (ISHLT 2021), the Clinical Pharmacogenetics Implementation Consortium (CPIC 2014), the National Society of Genetic Counselors (NSGC 2014), and the Cystic Fibrosis Foundation (CFF 2013).
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