Cystic fibrosis is an
autosomal recessive disease caused by defects in the CFTR gene
, which encodes for a protein that functions as a chloride channel, and also regulates the flow of other ions across the apical surface of epithelial cells.
What is the pathophysiologic mechanism of cystic fibrosis leading to obstructive lung disease?
Cystic fibrosis patients exhibit lung disease consistent with a failure of innate airway defense mechanisms. The link between abnormal ion transport and disease initiation and progression is not fully understood, but
airway mucus dehydration
seems paramount in the initiation of CF lung disease.
What is the pathophysiology of cystic fibrosis?
CF is
caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene
. The CFTR protein produced by this gene regulates the movement of chloride and sodium ions across epithelial cell membranes.
What is the root cause of cystic fibrosis?
CF is caused by
a genetic mutation that affects certain cellular proteins
that make up “channels,” which act like gates managing the flow of ions in and out of cells.
Which pathophysiological abnormality is present in cystic fibrosis?
In cystic fibrosis, a defect (mutation) in a gene — the
cystic fibrosis transmembrane conductance regulator (CFTR) gene
— changes a protein that regulates the movement of salt in and out of cells.
Can you get cystic fibrosis at any age?
While cystic fibrosis is
usually diagnosed in childhood
, adults with no symptoms (or mild symptoms) during their youth can still be found to have the disease.
How is cystic fibrosis detected?
A complete diagnostic evaluation for CF should include a
sweat chloride test, a genetic or carrier test
, and a clinical evaluation at a CF Foundation-accredited care center. Most children are now screened for CF at birth through newborn screening and the majority are diagnosed by age 2.
How does cystic fibrosis affect a child?
What Is Cystic Fibrosis? Cystic fibrosis (CF) is an inherited (genetic) condition found in children that
affects the way salt and water move in and out of cells
. This, in turn, affects glands that produce mucus, tears, sweat, saliva and digestive juices.
Why is a sweat test used to diagnose CF?
A sweat test
measures the amount of chloride, a part of salt, in Sweat
. It is used to diagnose cystic fibrosis (CF). People with CF have a high level of chloride in their sweat. CF is a disease that causes mucus build-up in the lungs and other organs.
What is the life expectancy for cystic fibrosis?
Many young adults with CF finish college or find jobs. Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is
about 44 years
. Death is most often caused by lung complications.
What are four symptoms of cystic fibrosis?
- Chronic coughing (dry or coughing up mucus)
- Recurring chest colds.
- Wheezing or shortness of breath.
- Frequent sinus infections.
- Very salty-tasting skin.
Are there different types of cystic fibrosis?
Are there different types of cystic fibrosis?
There are over 2,000 identified mutations of the cystic fibrosis gene
. Cystic fibrosis is a very complex condition that affects people in different ways. Some suffer more with their digestive system than the lungs.
Who is mostly affected by cystic fibrosis?
More than 30,000 people
are living with cystic fibrosis (more than 70,000 worldwide). Approximately 1,000 new cases of CF are diagnosed each year. More than 75 percent of people with CF are diagnosed by age 2. More than half of the CF population is age 18 or older.
Can you have cystic fibrosis without lung problems?
But new research suggests that this pulmonary view of cystic fibrosis is only half of the picture: a suite of symptoms associated with cystic fibrosis can also
occur in patients who do not have lung disease at all
, indicating that cystic fibrosis is really two diseases.
Can cystic fibrosis go undetected?
Mild forms of CF can remain undiagnosed until adulthood
. Most people with cystic fibrosis diagnosed in adulthood will have normal pancreatic function. The life expectancy of people diagnosed as adults with nonclassic CF is significantly longer than for people diagnosed in childhood.
Can cystic fibrosis be cured?
Treatments for cystic fibrosis.
There’s no cure for cystic fibrosis
, but a range of treatments can help control the symptoms, prevent or reduce complications, and make the condition easier to live with.
