Lung Disorders Autosomal Recessive Treatment Available

Cystic Fibrosis

A life-threatening genetic disorder that affects the lungs and digestive system. Caused by mutations in the CFTR gene, it results in thick, sticky mucus that clogs airways and blocks the pancreas.

Genetic Information

Associated Gene

CFTR

Inheritance Pattern

Autosomal Recessive

Carrier Frequency

1 in 25 (European ancestry)

Signs and Symptoms
  • Chronic cough with thick mucus
  • Frequent lung infections
  • Wheezing and shortness of breath
  • Poor growth despite good appetite
  • Salty-tasting skin
Treatment and Management
Treatment is available for this condition.

CFTR modulators (Trikafta), airway clearance, enzyme replacement

How Is It Inherited?

This condition follows an autosomal recessive inheritance pattern. This means:

  • Carriers (1 copy) are typically healthy with no symptoms
  • Affected individuals (2 copies) have the condition
  • If both parents are carriers: 25% chance with each pregnancy that the child will be affected
Carrier testing is recommended for individuals with a family history or from populations with higher carrier rates.
Medical Reference

For detailed clinical information, visit the GeneReviews article:

GeneReviews: Cystic Fibrosis
Quick Facts
Category Lung Disorders
Inheritance Autosomal Recessive
Gene(s) CFTR
Treatable Yes
Have Questions?

Speak with a board-certified genetic counselor to learn more about this condition and what it means for you.

Book Consultation
Resources
GeneReviews Article OMIM Database ClinVar Variants MedlinePlus Genetics
Disclaimer: This information is for educational purposes only and should not replace professional genetic counseling. If you have questions about genetic test results, please consult with a certified genetic counselor.