TY - CHAP M1 - Book, Section TI - Cystic Fibrosis A1 - Uluer, Ahmet Z. A1 - Dorkin, Henry L. A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Cystic fibrosis (CF) is the most common genetically inherited autosomal recessive disease in Caucasians that leads to multisystem organ dysfunction with the majority of morbidity and mortality related to respiratory and gastrointestinal (GI) systems.CF arises secondary to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on the long arm of chromosome 7; CFTR is translated into a multidomain chloride ion channel belonging to ATP-binding cassette (ABC) transporter superfamily.Greater than 1800 CFTR mutations are known and may be classified by their functional defect; each mutation leads to varying impact on salt and water balance.The pathogenesis of CF involving the lungs includes a vicious cycle of infection, inflammation, and bronchiectasis.The clinical course of CF is typically chronic or progressive punctuated by acute exacerbations and eventual respiratory failure. As patient survival improves, other organ system complications are increasingly identified and require therapy.Hereditary basis:Autosomal recessive pattern with variable clinical phenotype affected by the specific CFTR mutation, modifier genes, and environmentDifferential diagnosis:Bronchiectasis from other causes: primary ciliary dyskinesia, tuberculosis, chronic aspirationPrimary immune deficiency, for example common variable immune deficiencyOther causes of elevated sweat chloride levels: malnutrition, hypothyroidism, adrenal insufficiency SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102704479 ER -