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Cystic Fibrosis

Cystic Fibrosis is a hereditary disorder affecting the exocrine glands.

It causes the production of abnormally thick mucus, leading to the blockage of the pancreatic ducts, intestines, and bronchi and often resulting in respiratory infection.

Symptoms of CF

People with CF can have a variety of symptoms, including:

  • Very salty-tasting skin
  • Persistent coughing, at times with phlegm
  • Frequent lung infections including pneumonia or bronchitis
  • Wheezing or shortness of breath
  • Poor growth or weight gain in spite of a good appetite
  • Frequent greasy, bulky stools or difficulty with bowel movements
  • Male infertility

Most people with cystic fibrosis also have digestive problems.

Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth.

Other digestive problems result from a buildup of thick, sticky mucus in the pancreas.

The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food.

In people with cystic fibrosis, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion.

Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss.

In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).

And although they require daily care, people with the condition are able to attend school and work, and have a better quality of life than in previous decades.

Improvements in screening and treatments mean most people with cystic fibrosis now live into their 20s and 30s, and some are living into their 40s and 50s.

Symptoms that may be noticed later in life:

Infertility (in men)
Repeated inflammation of the pancreas (pancreatitis)
Respiratory symptoms
Clubbed fingers
Exams and Tests

A blood test is available to help detect CF. The test looks for changes in a gene known to cause the disease. Other tests used to diagnose CF include:

Immunoreactive trypsinogen (IRT) test is a standard newborn screening test for CF. A high level of IRT suggests possible CF and requires further testing.

Sweat chloride test is the standard diagnostic test for CF. A high salt level in the patient’s sweat is a sign of the disease.

Other tests that identify problems that can be related to cystic fibrosis include:

Chest x-ray or CT scan
Fecal fat test
Lung function tests
Measurement of pancreatic function
Secretin stimulation test
Trypsin and chymotrypsin in stool
Upper GI and small bowel series
Complications:

Respiratory system complications

Damaged airways (bronchiectasis). Cystic fibrosis is one of the leading causes of bronchiectasis, a condition that damages the airways, making it harder to move air in and out of the lungs, and clearing mucus from their airways (bronchial tubes).

Chronic infections. Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with cystic fibrosis may have frequent bouts of bronchitis or pneumonia.

Growths in the nose (nasal polyps). Because the lining inside the nose is inflamed and swollen, it can develop soft, fleshy growths (polyps). Nasal polyps can obstruct your breathing during sleep.

Coughing up blood (hemoptysis). Over time, cystic fibrosis can cause thinning of the airway walls. As a result, teenagers and adults with cystic fibrosis may cough up blood.

Pneumothorax. This condition, in which air collects in the space that separates the lungs from the chest wall, is also more common in older people with cystic fibrosis. Pneumothorax can cause chest pain and breathlessness.

Respiratory failure. Over time, cystic fibrosis can damage lung tissue so badly that it no longer works. Lung function typically worsens gradually, and it eventually can become life-threatening.

Digestive system complications

Nutritional deficiencies. Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body can’t absorb protein, fats or fat-soluble vitamins.

Diabetes. The pancreas produces insulin, which your body needs to use sugar. Cystic fibrosis increases the risk of diabetes. Nearly 20 percent of people with cystic fibrosis develop diabetes by age 30.

Blocked bile duct. The tube that carries bile from your liver and gallbladder to your small intestine may become blocked and inflamed, leading to liver problems and sometimes gallstones.

Intestinal obstruction. Intestinal obstruction can occur at any age. Children with cystic fibrosis are at higher risk of intussusception, a condition in which a section of the intestines folds in on itself like an accordion.

Distal intestinal obstruction syndrome (DIOS). DIOS is partial or complete obstruction where the small intestine meets the large intestine.

Reproductive system complications

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 cystic fibrosis to become fathers.

Although women with cystic fibrosis may be less fertile than other women, it’s possible for them to conceive and to have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of cystic fibrosis, so be sure to discuss the possible risks with your doctor.

Other complications

Thinning of the bones (osteoporosis). People with cystic fibrosis are at higher risk of developing a dangerous thinning of bones.

Electrolyte imbalances and dehydration. Because people with cystic fibrosis have saltier sweat, the balance of minerals in their blood may be upset. Signs and symptoms include increased heart rate, fatigue, weakness and low blood pressure.

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