pediatrics
Cystic Fibrosis
Introduction
Cystic fibrosis is an inherited disease of the exocrine glands affecting primarily the gastrointestinal and respiratory systems. It leads to chronic lung disease, exocrine pancreatic insufficiency, hepatobiliary disease, and abnormally high sweat electrolytes. Diagnosis is by sweat test or identification of 2 cystic fibrosis–causing gene variants in patients with a positive newborn screening test result or characteristic clinical features. Treatment is supportive through aggressive multidisciplinary care along with small-molecule correctors and potentiators targeting the cystic fibrosis transmembrane conductance regulator protein defect. Cystic fibrosis (CF) is a life-threatening genetic disease, which in the United States occurs in about 1/3,300 White births, 1/15,300 Black births, and 1/32,000 Asian American births. There are approximately 40,000 people with CF living in the United States, and approximately 100,000 diagnosed with CF worldwide. Because of improved treatment and life expectancy, about 58% of patients in the United States with CF are now adults ( General reference ). 