Type:
Educational Exhibit
Keywords:
Abdominal Viscera, Abdomen, Paediatric, CT, MR, Ultrasound, Diagnostic procedure, Education, Genetic defects, Not applicable
Authors:
R. P. Lameira1, J. Rosa1, M. V. Roque1, J. Fonseca-Santos2; 1Lisbon/PT, 2Lisboa/PT
DOI:
10.26044/ecr2020/C-09613
Background
Cystic fibrosis (CF) is an autosomal recessive disease caused by a great number of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
The CFTR gene encodes an epithelial ion channel essential for absorption and secretion of salt and water in various organs and tissues such as the airways, pancreas, intestine, liver, sweat glands, vas deferens, among others, making CF a multisystemic condition.
CF causes significant morbidity and mortality in the affected patients and is considered the most lethal inherited disease in the white population.
Although pulmonary manifestations dominate the clinical course and are responsible for most morbidity and mortality associated with most cases of CF, other organs and systems can be affected.