Dr. Sarah Livelo 07 Jun 2022

Cystic Fibrosis (CF) is a genetic disorder that affects multiple organs; patients who are diagnosed with this condition may present with a wide range of symptoms. The respiratory and gastrointestinal systems are most commonly affected. Various complications can also arise from CF, including pancreatitis, hyperglycemia, and liver dysfunction.

The CF gene is responsible for the production of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein helps the airways remove mucus and other microorganisms that can get caught up in airway walls and cause infections. The CFTR protein is also utilized in other areas, like the intestines. People with cystic fibrosis have a mutated CF gene, which either works incorrectly or cannot produce CFTR at all.

CF can be inherited from either parent. When a child inherits the mutated CF gene from both parents (called autosomal recessive inheritance), the disease becomes apparent, and signs and symptoms develop. This is more common in Caucasians: one out of every 3,500 babies that are born in the white population may develop CF. This condition may also be seen in people of Hispanic and African American descent.

Signs and Symptoms

Symptoms of CF can develop as early as infancy; babies may develop abdominal distension and meconium ileus, wherein stool is not easily excreted and starts to build up until it blocks the intestines. Children commonly experience persistent, chronic cough, wheezing, and difficulty gaining weight. Some have recurrent respiratory infections, nasal polyps, continuous sputum production, easy fatigability, and shortness of breath.

Children with CF can have electrolyte imbalances when infected with gastroenteritis or during warm seasons. Examples include decreased sodium and chloride levels - these electrolytes leave the body through the skin; in particular, their sweat becomes salty.

Affected individuals may develop exocrine pancreatic insufficiency, leading to problems absorbing fat and protein in the diet. This may make it difficult to gain weight during childhood. Stools often become bulky and greasy in consistency. The liver may also be affected. Patients may have yellowish discoloration of the eyes, abdominal distension, bloody vomiting episodes, and a gradual progression to cirrhosis.

The pancreas is also an endocrine organ: elevated blood sugar levels that may lead to diabetes mellitus can occur. Acute pancreatitis has also been seen in some patients. While females with CF can become pregnant, studies show that their fertility rate is less than those without CF. Men diagnosed with CF may not have sperm in their semen (azoospermia) because some parts of the male sexual organs do not develop in this disease.


For most countries, including the United States, cystic fibrosis is diagnosed as early as infancy through routine newborn screening. In recent years, most cases of CF are diagnosed even before symptoms develop.

For infants who turn out to have a positive newborn screening result for CF, the condition may be confirmed with further tests, such as a sweat chloride test or DNA testing. In the sweat chloride test, the patient’s sweat is collected and screened for the amount of chloride. On the other hand, DNA testing is done to check for specific mutations in the CFTR gene, which is seen in around 90% of CF cases. The healthcare team will also assess for a family history of CF.

Additional ways to diagnose CF is through pancreatic function tests, imaging using chest x-rays, and microbiologic studies for certain bacteria.


Because CF is inherited, there is currently no effective cure for this disease. Some medications, called CFTR modulators, may improve the function of the CFTR protein, but cannot completely eradicate it. Treatment is mainly focused on treating symptoms and preventing complications that can arise from CF.

CF patients are prone to frequent or recurrent lung infections. Healthcare providers may start antibiotics. Other lung issues include shortness of breath and persistent cough, which can be treated with bronchodilators, mucolytics, and hypertonic saline, among others. If there are nasal polyps, steroids may also be given. Airway clearance techniques, such as chest physiotherapy, addresses the common complaint of sticky phlegm by helping patients learn to breathe or cough better.

Very severe cases (such as bronchiectasis or end-stage lung disease) may need a referral to specialists for possible lung transplantation. If the liver is heavily involved, as in cirrhosis, a liver transplant may also be needed.


Since CF is genetic in nature, at the moment there are no medical breakthroughs that can prevent it from developing in the first place. Preventive measures are mainly focused on avoiding medical complications. This includes regular and appropriate immunization for age.

Both regular exercise and an appropriate diet may help with the body’s overall health and immunity. Salty food may be advised since sodium and chloride are easily lost through sweat. Vitamins may also be prescribed since CF can lead to improper absorption of fat-soluble vitamins. For those with problems in the pancreas, pancreatic enzymes may also be prescribed to improve nutrient absorption and reduce bulky stools.


Cystic fibrosis is an inherited disorder affecting the CFTR protein, which commonly affects the respiratory, gastrointestinal, endocrine, and genitourinary systems of the body. In this disease, the CF gene coding for the CFTR protein is mutated; not enough CFTR protein is produced in the body, or sometimes none at all. Signs and symptoms of CF may be seen as early as infancy, but routine newborn screening has made it possible to diagnose within the first few weeks of life. There is no effective cure for CF as of this writing, and management focuses on treating symptoms and preventing complications. Regular exercise, a healthy diet with supplementation are useful adjuncts to treatment.

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About the Author:
Dr. Sarah Livelo is a licensed physician with specialty training in Pediatrics. When she isn't seeing patients, she delves into healthcare and medical writing. She is also interested in advancements on nutrition and fitness. She graduated with a medical degree from the De La Salle Health Sciences Institute in Cavite, Philippines and had further medical training in Makati Medical Center for three years.


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