RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164079431 T1 Mucoviscidosis T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9781259861789 LK accesspediatrics.mhmedical.com/content.aspx?aid=1164079431 RD 2024/10/07 AB Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America, and Australia. It is a congenital multiorgan disease affecting mainly the lungs, liver, and pancreas. Frequent lung infections, hemoptysis, intolerance to exercise, presence of clubbing fingers suggesting pulmonary hypertension, rectal prolapse, and nasal polyps complete the clinical presentation. The mortality is mostly caused by bronchiectasis, small airways obstruction, and progressive respiratory impairment. Comorbidities are the result of epithelial cell dysfunction that occurs in the pancreas (malabsorption), liver (biliary cirrhosis), sweat glands (heat shock), and vas deferens (infertility). Although it is believed a rare disease, cystic fibrosis is recognized as one of the leading genetic disease causing life-shortening symptoms.