Abstract
Cystic fibrosis is the most common life-shortening genetic disease affecting Caucasians, clinically manifested by fat malabsorption, poor growth and nutrition, and recurrent sinopulmonary infections. Newborn screening programs for cystic fibrosis are now implemented throughout the United States and in many nations worldwide. Early diagnosis and interventions have led to improved clinical outcomes for people with cystic fibrosis. Newer cystic fibrosis transmembrane conductance regulator potentiators and correctors with mutation-specific effects have increasingly been used in children, and these agents are revolutionizing care. Indeed, it is possible that highly effective modulator therapy used early in life could profoundly affect the trajectory of cystic fibrosis lung disease, and primary prevention may be achievable.
Highlights
Newborn screening (NBS) programs were first established almost 60 years ago in the United States after the seminal discovery that phenylalanine could be detected from a dried blood spot, leading to early diagnosis of phenylketonuria and avoidance of the severe neurocognitive complications characteristic of this inherited metabolic disorder [1]
cystic fibrosis (CF) is caused by defective CF transmembrane conductance regulator (CFTR), a cyclic adenosine monophosphate (cAMP)-regulated anion transporter expressed on the surface of various epithelia
Some were identified shortly after birth when they presented with meconium ileus, which occurs in roughly 15% of children with CF [8, 9]
Summary
Newborn screening (NBS) programs were first established almost 60 years ago in the United States after the seminal discovery that phenylalanine could be detected from a dried blood spot, leading to early diagnosis of phenylketonuria and avoidance of the severe neurocognitive complications characteristic of this inherited metabolic disorder [1]. Occurring in roughly 1 in 3,000 live births in the United States, based on epidemiological and neonatal screening data, CF is the most common, life-shortening inherited disease of Caucasians [3]. Innate defenses are compromised by altered bicarbonate secretion in the CF airway [6, 7] Together, these changes lead to progressive airway obstruction, allowing bacterial infection to become established and provoking a persistent neutrophilic inflammatory response that results in the gradual destruction of the airways and respiratory failure. Serial IRT approaches without genetic analysis has benefits, allowing for identification of individuals with less common CFTR mutations in certain populations [19], but delaying time to a positive screen because the second specimen is obtained later. Genetic testing has the advantage of identifying people who are heterozygous for CFTR mutations, and more likely to identify patients with mutations but normal or equivocal sweat chloride levels, referred to as CFTR-related metabolic syndrome or, in Europe, CF screen-positive, inconclusive diagnosis
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