Cystic Fibrosis Overview

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Questions and Answers

What leads to an increased salt content in sweat glands in cystic fibrosis?

Increased production of insulin

Defect in the ability to absorb sugars

Transepithelial potential difference (correct)

Excessive hydration of sweat glands

Which clinical manifestation is related to gastrointestinal involvement in cystic fibrosis?

Intestinal hypermobility

Gastroesophageal reflux disease (GERD) (correct)

Malnutrition due to excessive appetite

Diverticulitis

What is the term used for the process of increasing the viscosity of a fluid due to dehydration in cystic fibrosis?

Inspissation (correct)

Evaporation

Hyperhydration

Insufflation

At what age can Distal Intestinal Obstruction Syndrome develop?

At any age outside of the neonatal period Signup and view all the answers

What basis is used for the diagnostic sweat chloride test in cystic fibrosis?

High salt content in sweat Signup and view all the answers

Which of the following is NOT a related condition to cystic fibrosis?

Celiac disease Signup and view all the answers

Which statement about cystic fibrosis is true regarding its occurrence in different age groups?

Symptoms can appear at any age. Signup and view all the answers

What is the consequence of the defect in reabsorption of electrolytes in cystic fibrosis?

Increased viscosity of intestinal secretions Signup and view all the answers

What is the primary purpose of the Immunoreactive Trypsinogen (IRT) test in cystic fibrosis diagnosis?

To screen newborns for cystic fibrosis Signup and view all the answers

Which treatment goal addresses the comprehensive care of patients with cystic fibrosis?

Addressing nutritional, gastrointestinal, pulmonary, and psychosocial concerns Signup and view all the answers

Which of the following is NOT a confirmatory test for cystic fibrosis?

Blood glucose levels Signup and view all the answers

What does Pseudomonas aeruginosa primarily thrive in?

A moist and warm environment Signup and view all the answers

What is a key aspect of nonpharmacologic therapy for cystic fibrosis?

Achieving and maintaining normal weight for adults and children Signup and view all the answers

What is the primary consequence of CFTR dysfunction in the pancreas?

Ductal obstruction and pancreatic tissue damage Signup and view all the answers

Which symptoms are characteristic of poor fat absorption in individuals with cystic fibrosis?

Steatorrhea and malnutrition Signup and view all the answers

How does cystic fibrosis impact liver function?

It creates an obstruction in bile flow Signup and view all the answers

What percentage of children with cystic fibrosis experience significant liver disease?

25% Signup and view all the answers

Which vitamins are commonly affected by malabsorption in cystic fibrosis?

Vitamin A, D, E, and K Signup and view all the answers

What is a common complication of cystic fibrosis in adults?

Diabetes mellitus Signup and view all the answers

What effect does the accumulation of digestive enzymes have in cystic fibrosis?

Leads to inflammation and pancreatic scarring Signup and view all the answers

What is a possible reason for malnutrition in individuals with cystic fibrosis?

Poor fat and protein digestion Signup and view all the answers

Which tests confirm a positive result from the initial screening for cystic fibrosis?

Pilocarpine iontophoresis test and DNA analysis test Signup and view all the answers

What is the purpose of the pilocarpine iontophoresis test?

To analyze sweat chloride levels Signup and view all the answers

What BMI percentile is recommended for children and adolescents diagnosed with cystic fibrosis?

At or above the 50th percentile Signup and view all the answers

Why was a plastic wrap previously used during the pilocarpine iontophoresis test?

To increase sweat production Signup and view all the answers

What risk is reduced by the new method of conducting the pilocarpine iontophoresis test?

Hyperpyrexia Signup and view all the answers

What factor contributes to the repeated hospitalizations due to P. aeruginosa infection?

Reduced airway surface liquid Signup and view all the answers

What is the primary role of the airway surface layer (ASL) in lung defense?

To create a barrier against pathogens Signup and view all the answers

How does the CFTR gene defect impact mucus in patients with CF?

It leads to mucus hypersecretion Signup and view all the answers

What is a consequence of neutrophil-mediated chronic inflammatory response in the lungs?

Reduced lung tissue oxygenation Signup and view all the answers

What does the depletion of airway surface liquid (ASL) lead to in patients with CF?

Development of anaerobic conditions Signup and view all the answers

What happens to the intracellular organelles due to the CFTR defect?

They alkalize and accumulate ceramide Signup and view all the answers

What is a recommended treatment method for clearing mucus in a CF patient?

Mucolytic agents Signup and view all the answers

Which of the following statements about mucus in the lungs is correct?

Thickened mucus causes airway obstruction Signup and view all the answers

Which of the following substances are found in the airway surface layer (ASL)?

Antimicrobials and antioxidants Signup and view all the answers

What physiological change occurs due to high reabsorption of sodium in CF patients?

Thicker mucus in the airway passages Signup and view all the answers

Study Notes

Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic disorder that primarily impacts the lungs, pancreas, liver, intestines, and reproductive system.
CF results from mutations in the CFTR gene, which encodes for a protein responsible for regulating the movement of chloride ions across cell membranes.
The dysfunctional CFTR protein disrupts the normal balance of chloride (Cl-), sodium (Na+), and water in various tissues, leading to thickened mucus, impaired digestion, and increased susceptibility to infections.

Sweat Glands

CF affects the sweat glands, causing an increased salt content in sweat.
The defect lies in the reabsorption of electrolytes.
This abnormality is the basis for the diagnostic sweat chloride test.

Pancreas

The pancreas is significantly impacted by CF.
Both exocrine and endocrine functions are affected by CF.
CFTR dysfunction leads to a reduction in digestive enzymes and bicarbonates secretion into the duodenum, resulting in impaired digestion.
This leads to malabsorption of fats, proteins, and carbohydrates, manifested as steatorrhea, decreased absorption of fat-soluble vitamins, and nutritional deficiencies.
The accumulation of pancreatic enzymes can cause destruction of the pancreatic tissue, leading to scarring and chronic pancreatitis, a defining characteristic of CF.

Digestive System

CF impacts the digestive system, leading to a variety of complications, including:
- Meconium ileus: This condition occurs in newborns and involves obstruction of the small intestine by thick, sticky meconium (first stool).
- Distal intestinal obstruction syndrome: It can occur at any age and involves intestinal blockage by thick, dehydrated stool.
- Gastroesophageal reflux disease (GERD): It occurs due to gastrointestinal involvement.

Liver

The liver is affected by CF due to the impact on the bile ducts.
CFTR dysfunction obstructs bile flow, leading to biliary stasis, inflammation, and ultimately, focal biliary cirrhosis in severe cases.
Liver disease usually develops in the first decade of life.

Respiratory System

The most severe complications of CF arise from the lungs.
CFTR dysfunction causes reduced airway surface liquid (ASL), resulting in thicker mucus that obstructs airways.
This obstruction leads to a build-up of bacteria, particularly Pseudomonas aeruginosa.
The persistent infection causes chronic inflammation that damages lung tissue, resulting in progressive lung disease, recurrent respiratory infections, and frequent hospitalizations.

Genitourinary System

CF also affects the genitourinary system.
Some individuals with CF experience infertility due to:
- Congenital absence of the vas deferens (a duct that carries sperm) in males.
- Thick mucus in the cervix that hinders sperm mobility in females.

Treatment

CF treatment focuses on addressing nutritional needs, managing gastrointestinal complications, preventing and treating infections, and improving lung function.
Non-pharmacological therapy includes:
- Nutritional support: To achieve and maintain normal growth and development.
- Respiratory therapy: To clear airways and reduce inflammation.
- Physical therapy: To improve lung function.
- Psychosocial support: To address the emotional impact of CF.
Pharmacological therapy includes:
- Antibiotics: To treat and prevent infections.
- Mucolytics: To loosen mucus and improve airway clearance.
- Pancreatic enzyme supplements: To aid digestion.
- Vitamin supplements: To address vitamin deficiencies.
- CFTR modulators: These medications are newer therapies that aim to improve the function of the CFTR protein.

Newborn Screening

Newborn screening is a vital tool for early diagnosis of CF.
The Immunoreactive Trypsinogen (IRT) test is used as a screening test.
If the initial IRT test indicates a possible CF diagnosis, confirmatory tests are performed, including the pilocarpine iontophoresis test (sweat chloride test) and DNA analysis.
Early diagnosis and treatment are crucial for improving long-term outcomes for individuals with CF.

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Description

Explore the genetic disorder Cystic Fibrosis, its effects on various organs including the lungs and pancreas, and how it disrupts normal physiological functions. The quiz also covers the role of the CFTR gene and its significance in diagnosing the condition.