Cystic Fibrosis Overview

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

Which genetic factors contribute to a child developing cystic fibrosis?

Inheritance of a single CFTR gene

Environmental factors from one parent

Positive family history of lung disease

Defective CFTR genes from both parents (correct)

What is a key clinical manifestation of cystic fibrosis in the respiratory system?

Lower risk of respiratory infections

Normal lung function

Chronic cough with thick, sticky mucus (correct)

Acute bronchitis without chronic cough

What confirms a diagnosis of cystic fibrosis using a sweat test?

Chloride concentration between 40-60 mmol/L

Chloride concentration greater than 60 mmol/L (correct)

Chloride concentration less than 40 mmol/L

Presence of CFTR mutations in saliva

Which treatment option is specifically intended to improve digestion and nutrient absorption in cystic fibrosis patients?

Pancreatic enzyme replacement therapy (PERT) Signup and view all the answers

Which of the following is a common symptom associated with cystic fibrosis?

Salty-tasting skin Signup and view all the answers

What is the primary genetic cause of cystic fibrosis?

Mutations in the CFTR gene Signup and view all the answers

How does cystic fibrosis affect lung function?

Blockage by thick mucus Signup and view all the answers

What results from the pancreas being unable to secrete enzymes effectively in cystic fibrosis?

Pancreatic insufficiency and malabsorption Signup and view all the answers

What is the inheritance pattern of cystic fibrosis?

Autosomal recessive Signup and view all the answers

What is a common reproductive effect of cystic fibrosis in males?

Vas deferens blockage or absence Signup and view all the answers

Which population is most affected by cystic fibrosis?

Caucasian/European descent Signup and view all the answers

What role do inflammatory mediators like IL-8 play in cystic fibrosis?

Recruiting neutrophils that cause lung tissue damage Signup and view all the answers

Which of the following is NOT a consequence of thick, sticky mucus in the intestines due to cystic fibrosis?

Improved digestion Signup and view all the answers

What gene is primarily mutated in Cystic Fibrosis?

CFTR gene Signup and view all the answers

Which mutation is the most common in Cystic Fibrosis?

F508del mutation Signup and view all the answers

What is the primary consequence of CFTR protein dysfunction in Cystic Fibrosis?

Thicker, dehydrated mucus production Signup and view all the answers

Which of the following organ systems is NOT primarily affected by Cystic Fibrosis?

Cardiovascular system Signup and view all the answers

What role does the CFTR protein play in epithelial cells?

Chloride ion transport Signup and view all the answers

How do bacterial infections in the lungs relate to Cystic Fibrosis?

Thick mucus creates an environment for bacterial growth. Signup and view all the answers

What is the effect of the CFTR mutation on chloride ion transport?

Decreased chloride ion transport Signup and view all the answers

What secondary condition is often caused by recurrent lung infections in individuals with Cystic Fibrosis?

Bronchiectasis Signup and view all the answers

Study Notes

Cystic Fibrosis (CF)

CF is a genetic disorder affecting exocrine glands, primarily the lungs, pancreas, and reproductive system.
The disease is characterized by thick, sticky mucus clogging airways and ducts.

Causes

Genetic Mutation: CF is caused by mutations in the CFTR gene.
F508del Mutation: The most common mutation, causing a misfolded CFTR protein that is destroyed by the cell's quality control system.
CFTR Protein Dysfunction: Disrupts the transport of chloride ions across epithelial cell membranes. This leads to a deficiency in chloride ion transport.

Pathophysiology

Chloride Ion Transport Dysfunction: CFTR protein's failure to transport chloride ions affects hydration of mucus.
Thick, Dehydrated Mucus: Reduced chloride transport results in thicker, dehydrated mucus in lungs, pancreas, intestines, and other organs.
- This mucus buildup obstructs the airways.
- Creates a breeding ground for bacterial infections.

Respiratory Effects

Chronic Infections: Recurrent lung infections (e.g., Pseudomonas aeruginosa, Staphylococcus aureus) are common.
Bronchiectasis: Airway damage and widening.
Inflammation: Inflammatory mediators damage lung tissue, further obstructing airways.
- This leads to progressive lung disease.

Digestive Effects

Pancreatic Insufficiency: Mucus blocks pancreatic ducts, hindering enzyme secretion and causing malabsorption of nutrients.
Malnutrition: Impaired nutrient absorption hinders proper growth and development.
Intestinal Obstruction: Thick mucus can block the intestines.

Reproductive Effects

Male Infertility: In males, vas deferens blockage is a common consequence.

Transmission

Autosomal Recessive: Both parents must be carriers of the CFTR gene mutation for a child to inherit the disease.
Carrier Detection: Individuals with one copy of the mutated gene are carriers, typically without symptoms.

Risk Factors

Genetics: Most significant risk factor, primarily linked to carrier parents.
Ethnicity: Caucasians are most affected.
Geography: Prevalence varies geographically.
Early Diagnosis and Treatment: Access to prompt diagnosis and suitable medications affects disease outcome severity.

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Description

This quiz explores the genetic disorder Cystic Fibrosis (CF), focusing on its causes, pathophysiology, and the impact of genetic mutations. Participants will learn about the CFTR gene and how its dysfunction leads to respiratory and digestive challenges. Test your knowledge on this significant health issue.