cystic fibrosis is characterized by which symptom course hero

CF affects mucus-producing organs and presents predominantly with respiratory and gastrointestinal symptoms. 2 The disease is clinically characterized by chronic airways infection and inflammation, resulting in lung fibrosis and progressive loss of pulmonary function.

Full Answer

What are the key points about cystic fibrosis?

Key points about cystic fibrosis 1 Cystic fibrosis (CF) is an inherited life-threatening disease that affects many organs. ... 2 CF is characterized by problems in the glands that produce sweat and mucus. 3 A person will be born with CF only if 2 CF genes are inherited—one from the mother and one from the father. 4 All U.S. ... More items...

What is cystic fibrosis?

What You Need to Know Cystic fibrosis is an inherited disease characterized by an abnormality in the glands that produce sweat and mucus. Cystic fibrosis affects various organ systems in children and young adults, including the respiratory system, digestive system and reproductive system.

What are the signs and symptoms of cystic fibrosis (CF)?

Sinus manifestations of CF include chronic rhinosinusitis, chronic post-nasal drip, nasal polyposis, and panopacification of the paranasal sinuses. Pancreatic manifestations include pancreatic insufficiency, recurrent pancreatitis, and early-onset diabetes.

When will I be diagnosed with cystic fibrosis?

In the U.S., because of newborn screening, cystic fibrosis can be diagnosed within the first month of life, before symptoms develop. But people born before newborn screening became available may not be diagnosed until the signs and symptoms of CF show up. Cystic fibrosis signs and symptoms vary, depending on the severity of the disease.

What is a hereditary disorder characterized by lung congestion and infection AND malabsorption of nutrients by the pan?

Cystic fibrosis is a hereditary disorder characterized by lung congestion and infection AND malabsorption of nutrients by the pancreas.

Is growth an issue?

Growth can be an issue d/t high energy needs and increased malabsorption.

What are the symptoms of cystic fibrosis?

People who are not diagnosed until adulthood usually have milder disease and are more likely to have atypical symptoms, such as recurring bouts of an inflamed pancreas (pancreatitis), infertility and recurring pneumonia. People with cystic fibrosis have a higher than normal level of salt in their sweat.

When can cystic fibrosis be diagnosed?

In the U.S., because of newborn screening, cystic fibrosis can be diagnosed within the first month of life, before symptoms develop. But people born before newborn screening became available may not be diagnosed until the signs and symptoms of CF show up.

What causes a bronchial tube to be scarred?

Cystic fibrosis is one of the leading causes of bronchiectasis, a chronic lung condition with abnormal widening and scarring of the airways (bronchial tubes). This makes it harder to move air in and out of the lungs and clear mucus from the bronchial tubes. Chronic infections.

Why do cystic fibrosis patients have dehydration?

Electrolyte imbalances and dehydration. Because people with cystic fibrosis have saltier sweat, the balance of minerals in their blood may be upset. This makes them prone to dehydration, especially with exercise or in hot weather.

What is the mutation in the cystic fibrosis transmembrane conductance regulator?

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. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.

Why are men with cystic fibrosis infertile?

Almost all men with cystic fibrosis are infertile because the tube that connects the testes and prostate gland (vas deferens) is either blocked with mucus or missing entirely. Certain fertility treatments and surgical procedures sometimes make it possible for men with CF to become biological fathers.

Why is it so hard to breathe in cystic fibrosis?

In cystic fibrosis, the airways fill with thick, sticky mucus, making it difficult to breathe. The thick mucus is also an ideal breeding ground for bacteria and fungi.

What is cystic fibrosis?

Cystic fibrosis (CF) is an inherited life-threatening disease that affects many organs. It causes changes in the electrolyte transport system causing cells to absorb too much sodium and water. CF is characterized by problems with the glands that make sweat and mucus. Symptoms start in childhood. On average, people with CF live into their mid to late 30.

How is cystic fibrosis treated?

There is no cure for CF. Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.

How does CF affect the gastrointestinal (GI) system?

CF mainly affects the pancreas. The pancreas secretes substances that aid digestion and help control blood sugar levels.

How does CF affect the reproductive system?

Most males with CF have blockage of the sperm canal. This is called congenital bilateral absence of the vas deferens (CBAVD). This results from the thick secretions clogging the vas deferens and keeping them from developing properly. It causes infertility because sperm can't travel out of the body. There are some newer techniques that allow men with cystic fibrosis to have children. These should be discussed with your healthcare provider. Women also have an increase in thick cervical mucus that may lead to a decrease in fertility, although many women with CF are able to have children.

What is the cause of CF?

Mutations in a gene called the CFTR (cystic fibrosis conductance transmembrane regulator) gene cause CF. The CFTR mutations causes changes in the body’s cell’s electrolyte transport system. Electrolytes are substances in blood that are critical to cell function. The main result of these transport system changes are seen in the body secretions, ...

What organ system does cystic fibrosis affect?

Cystic fibrosis affects various organ systems in children and young adults, including the respiratory system, digestive system and reproductive system.

How do you know if you have CF?

The symptoms of CF that may be due to involvement with the GI tract include: Bulky, greasy stools. Rectal prolapse (a condition in which the lower end of the bowel comes out of the anus) Delayed puberty. Fat in the stools. Stomach pain.

How to treat cystic fibrosis?

Therefore, treatment should focus on optimizing function to avoid acute illness events. This should target maintaining lung function by aggressively controlling respiratory infection and clearing airways of mucus, optimizing nutritional status with pancreatic enzyme supplements and multivitamins, and finally, by managing any other health complications that may arise. This is best performed when using a team approach of specialists who are experienced in managing cystic fibrosis. [15][16][17][18]

What causes cystic fibrosis?

In 1949, Lowe et al. postulated that cystic fibrosis must be caused by a genetic defect from the autosomal recessive pattern of inheritance of the disease. High levels of salt in the sweat of patients with cystic fibrosis suggested an abnormality in electrolyte transport from the sweat gland. Researchers now know that cystic fibrosis is an autosomal recessive disorder of exocrine gland function most commonly affecting persons of Northern European descent at a rate of 1:3500. It is a chronic disease that frequently leads to chronic sinopulmonary infections and pancreatic insufficiency. The most common cause of death is end-stage lung disease. This activity reviews the workup of cystic fibrosis and describes the role of health professionals working together to manage this condition.

What is class 1 dysfunction?

Class 1 dysfunction is the result of nonsense, frameshift, or splice-site mutation, which leads to premature termination of the mRNA sequence. This fails to translate the genetic information into a protein product with a subsequent total absence of CFTR protein, and approximately 2% to 5% of cystic fibrosis cases result.

How does sweat affect CFTR?

Normally, sweat glands move chloride from the extracellular space into the intracellular space. Thus, sodium and water are reabsorbed from the sweat gland tissues into the body. However, failure of the chloride channel to reabsorb chloride leads to a loss of sodium onto the skin surface and a subsequent fluid loss. This causes the pathognomonic salty skin seen with cystic fibrosis. In prolonged or warm environments or more severe cases, this may lead to hyponatremic dehydration.

What is the most common mutation in CF?

The most common mutation is delta F508, which is found in 70% of American white patients with CF and two-thirds of all cases worldwide. This mutation is a class 2 mutation of abnormal folding of the CFTR protein, leading to premature destruction within the Golgi apparatus. The delta F508 mutation commonly leads to exocrine pancreatic insufficiency and a higher likelihood of meconium ileus. [6]

What is CF mutation?

CF is caused by a genetic mutation in a gene on chromosome 7 that codes for a protein transmembrane conductance regulator (CFTR) protein , which functions as a transmembrane cAMP-activated chloride channel.  Both copies of the gene are mutated in clinical disease.

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