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Cystic fibrosis (CF) is a genetic multisystem disorder caused by mutations in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator), leading to defective chloride transport across epithelial cells. This results in viscous secretions affecting primarily the respiratory, gastrointestinal, and reproductive systems, causing progressive pulmonary disease, pancreatic insufficiency, and infertility.

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https://www.youtube.com/watch?v=CqFsAwCFvCM

https://www.youtube.com/watch?v=ST5dWYR5alI

https://www.youtube.com/watch?v=LXtUdPRdFIM

https://youtu.be/9AvggXbuRj4

Etiopathogenesis

Inheritance: Autosomal recessive
Gene: CFTR gene on chromosome 7q31.2
Common mutation: ∆F508 (deletion of phenylalanine at position 508)

Pathophysiology:

Dysfunctional CFTR protein → impaired chloride and water transport
Thick mucus in airways and ducts → chronic infection, obstruction, and inflammation
Progressive bronchiectasis, fibrosis, and respiratory failure

Clinical Features

System	Manifestations
Respiratory	Chronic cough, wheezing, recurrent pneumonia, hemoptysis, bronchiectasis
GI/Pancreas	Pancreatic insufficiency, steatorrhea, failure to thrive, meconium ileus
Hepatobiliary	Biliary cirrhosis, gallstones
Reproductive	Male infertility (CBAVD – congenital bilateral absence of vas deferens)
Electrolytes	Hyponatremic dehydration, heat intolerance

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Etiopathogenesis

Clinical Features

Complications