TY - CHAP M1 - Book, Section TI - Cystic Fibrosis A1 - Fitzpatrick, Meghan E. A1 - Prendergast, Niall T. A1 - Rivera-Lebron, Belinda A2 - Papadakis, Maxine A. A2 - McPhee, Stephen J. A2 - Rabow, Michael W. A2 - McQuaid, Kenneth R. PY - 2023 T2 - Current Medical Diagnosis & Treatment 2023 AB - ESSENTIALS OF DIAGNOSISAutosomal recessive disorder.Pulmonary disease: chronic or recurrent productive cough, dyspnea, and wheezing; recurrent airway infections or chronic colonization of the airways with H influenzae, P aeruginosa, S aureus, or Burkholderia cenocepacia; bronchiectasis and scarring on chest radiographs; airflow obstruction on spirometry.Extrapulmonary disease: sinus disease (chronic sinusitis and nasal polyposis); GI disease (pancreatic insufficiency, recurrent pancreatitis, hepatobiliary disease, meconium ileus, and distal intestinal obstruction); genitourinary problems (absent vas deferens and male infertility).Diagnosis: sweat chloride concentration > 60 mEq/L on two occasions; or presence of two disease-causing mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene; or sweat chloride concentration 30–59 mEq/L plus one disease-causing mutation in CFTR gene. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/04/23 UR - accessmedicine.mhmedical.com/content.aspx?aid=1193145939 ER -