Cystic Fibrosis A Genetic Disorder In Children

Cystic Fibrosis A Genetic Disorder In Children

Cystic Fibrosis (CF) is a genetic disorder that significantly impacts the respiratory, digestive, and reproductive systems. It is one of the most common rare diseases in children.  


  • Genetic Mutation: CF is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which is responsible for regulating the movement of salt and water in and out of cells. The most common mutation is ΔF508. 
  • Inheritance: CF is an autosomal recessive disorder, meaning a child must inherit one defective CFTR gene from each parent to develop the disease. 


Respiratory Symptoms: 

  • Frequent lung infections like pneumonia, bronchitis 
  • Wheezing or shortness of breath 
  • Nasal polyps 

Digestive Symptoms: 

  • Frequent, bulky, greasy stools or difficulty with bowel movements 
  • Intestinal blockages, particularly in newborns (meconium ileus) 

Other Symptoms: Salty-tasting skin, clubbing of fingers and toes (widening and rounding of the fingertips) 

Image credit: Content credentials Generated with AI ∙ July 2, 2024 at 6:19 AM  

Author: Sumana Rao | Posted on: July 3, 2024

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