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What are some potential systemic complications of cystic fibrosis beyond the respiratory system?
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Potential complications include nutritional deficiencies, especially in fat-soluble vitamins, and risks for diabetes and liver disease.
What role does newborn screening play in the diagnosis of cystic fibrosis?
Newborn screening helps identify cystic fibrosis early by detecting elevated levels of specific markers in the blood, prompting further investigation.
List some respiratory management strategies for individuals with cystic fibrosis.
Respiratory management may include vaccinations, airway clearance techniques, and aerobic exercise.
Name one significant long-term complication of cystic fibrosis on the liver.
One long-term complication of cystic fibrosis on the liver is fibrosis, which can progress to cirrhosis.
Describe the impact of cystic fibrosis on the pancreas.
In the pancreas, cystic fibrosis causes blockage of ducts, leading to premature enzyme activation and autodestruction of pancreatic tissue.
Describe how cystic fibrosis affects fertility in females.
In females, cystic fibrosis can cause fertility issues due to the thickening of cervical mucus, which impedes sperm movement.
What treatments are available for managing recurrent respiratory infections in cystic fibrosis patients?
Treatments include antibiotics for infections, prophylactic antibiotics, bronchodilators, and mucolytics.
In what way does cystic fibrosis affect nutrition and how is it managed?
Cystic fibrosis leads to malabsorption and nutritional deficiencies, which are managed with a high-calorie diet and pancreatic enzyme replacement therapy.
Explain how cystic fibrosis affects the lungs.
Cystic fibrosis affects the lungs by producing thick mucus, leading to infections, inflammation, and bronchiectasis.
What is the most common genetic variant causing cystic fibrosis?
The most common genetic variant causing cystic fibrosis is the f508 deletion, which accounts for approximately 85% of cases.
Where is the CFTR gene located and what essential function does the protein it encodes perform?
The CFTR gene is located on Chromosome 7 and it encodes a protein that forms a channel regulating chloride ion movement across cell membranes.
What is the purpose of CFTR modulators in cystic fibrosis treatment?
CFTR modulators, such as Ivacaftor and Lumacaftor, help improve the function of the defective CFTR protein and are used to treat cystic fibrosis.
How is a sweat test used in the diagnosis of cystic fibrosis?
A sweat test measures the chloride concentration in sweat; values greater than 60 mmol/L are indicative of cystic fibrosis.
Why are males with cystic fibrosis typically infertile?
Males with cystic fibrosis are typically infertile due to congenital absence or blockage of the vas deferens.
What type of genetic mutation is responsible for cystic fibrosis and how is it inherited?
Cystic fibrosis is caused by mutations in the CFTR gene and is inherited in an autosomal recessive manner.
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