TY - CHAP M1 - Book, Section TI - Mucoviscidosis A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/08 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164079431 ER -