Cystic fibrosis (CF) is an autosomal recessive multisystem disorder caused by any one of a variety of pathogenic mutations of the large CF transmembrane conductance regulator (CFTR) gene. This affects exocrine glands primarily in the lungs, digestive system, sweat glands, and reproductive tract, leading to chronic lung disease (the major complication), exocrine pancreatic insufficiency, hepatobiliary disease, and abnormally high sweat electrolytes. It is the most common life-threatening genetic disease in the White population. The mutation lead to dysfunction of chloride channels, which results in hyperviscous mucus and the accumulation of secretions. Common presentations include chronic respiratory infections, failure to thrive, and pancreatic insufficiency. Cystic fibrosis ultimately leads to chronic inflammation and multisystem organ failure, but many patients have only mild symptoms, depending on the mutation variant. Newborn screening is performed by measuring immunoreactive trypsinogen (IRT) in the blood, followed by CFTR mutation testing, and then by a sweat test. Management includes CFTR modulator therapy and system-specific strategies for supportive care. Prognosis varies depending on treatment and complications. With optimal medical care, patients can live into their mid-40s.
