5 Questions
Which initial manifestations may indicate cystic fibrosis in newborns?
Meconium ileus and failure to thrive
What is the cause of cystic fibrosis?
Mutations in the CFTR gene
What is the first diagnostic study for suspected cystic fibrosis?
Sweat test
How does cystic fibrosis affect the respiratory tract?
Defective Cl- channels result in thickened bronchial mucus and impaired mucociliary clearance
What can CFTR dysfunction in the exocrine pancreas and biliary tract lead to?
CF-related liver disease (CFLD) and CF-related diabetes (CFRD)
Study Notes
Initial Manifestations of Cystic Fibrosis in Newborns
- Meconium ileus, a blockage of the small intestine in newborns, is a common initial manifestation of cystic fibrosis
- Failure to pass meconium within the first 24-48 hours of life
- DIOS (distal intestinal obstruction syndrome) may also be present
Cause of Cystic Fibrosis
- Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
- These mutations disrupt the function of the CFTR protein, leading to impaired chloride transport and thickened mucus production
Diagnostic Studies for Suspected Cystic Fibrosis
- Sweat chloride test is the first diagnostic study for suspected cystic fibrosis
- A sweat chloride level >60 mmol/L is indicative of cystic fibrosis
Respiratory Tract Effects of Cystic Fibrosis
- CFTR dysfunction in the respiratory tract leads to thickened, sticky mucus production
- This causes airway obstruction, chronic lung disease, and increase risk of respiratory infections
Effects of CFTR Dysfunction on the Exocrine Pancreas and Biliary Tract
- CFTR dysfunction in the exocrine pancreas and biliary tract leads to malabsorption of nutrients and fatty liver disease
Test your knowledge on the causes and initial manifestations of cystic fibrosis (CF), an autosomal recessive disorder caused by mutations in the CFTR gene. Learn about how mandated newborn screening can detect CF during the asymptomatic newborn period.
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