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Diagnosis & Treatment

Cystic Fibrosis

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How is Cystic Fibrosis Diagnosed?

Diagnosis

Most people are diagnosed with cystic fibrosis at birth with newborn screening. All 50 states in the United States screen newborns for cystic fibrosis, although each state may have different methods. New York State has one of the most detailed screening methods.

If an infant screens positive or is a doctor suspects cystic fibrosis, a sweat test will be ordered that tests the baby’s sweat to measure the salt content. If cystic fibrosis is detected, the hospital will then administer a genetic test, which tests the baby’s DNA for mutations that cause cystic fibrosis. The sooner cystic fibrosis is discovered in an infant, the sooner the necessary treatment can begin.

  • Sweat test. This painless test works by attaching a small electrode to the baby’s skin which has been applied with a sweat producing chemical to allow the sweat glands to produce sweat. The level of chloride, a component of salt, is then measured.
  • Immunoreactive trypsinogen test (IRT). The baby’s blood is screened for a chemical called immunoreactive trypsinogen (IRT) which is produced by the pancreas. High levels of this chemical could be an indication of cystic fibrosis. Therefore, additional tests are performed to confirm a diagnosis for this condition.
  • Genetic tests. Doctors rely on genetic tests for certain gene mutations that occur in people with cystic fibrosis. Doctors obtain a sample of DNA either from a blood test or by swabbing the inside of a person’s cheek. The sample is sent to a laboratory which identifies mutations on the CFTR gene. A genetic test can show the exact mutation a person has. This information indicates which system is primarily affected by cystic fibrosis—respiratory, digestive, or reproductive.
    • Panel test. This genetic test searches for the most common mutations that cause cystic fibrosis. A positive test indicates a 99% chance of having the disease. Rarely, a negative test misses a mutated gene, though it is possible.
    • Gene sequencing. This test examines about 250,000 pairs of chromosomes that make up the CFTR gene. It can be an expensive test.

If a person exhibited symptoms of cystic fibrosis as an older child or adult and was not screened for this condition at birth, genetic testing and the sweat test will probably be requested by the doctor to confirm a diagnosis.

How is Cystic Fibrosis Treated?

Treatment

A cure for cystic fibrosis does not exist yet, but in recent decades innovative treatments for this condition have greatly increased a person’s survival rate. Early intervention and continued management at an accredited cystic fibrosis treatment center can slow the progression of the disease and help a person live a less medically-complicated life.

Cystic fibrosis treatment centers concentrate on ways to:

  • Follow infection prevention and control guidelines
  • Promote healthy growth and development
  • Address any nutritional deficits, including pancreatic enzyme supplementation
  • Preserve lung function by chest physiotherapy, airway clearance, mucous modulating agents, and antibiotic regimens
Medications to treat cystic fibrosis
  • Combination medications
  • Antibiotics. Antibiotics are used to treat frequent lung infections
  • Anti-inflammatory medications. These medications help reduce inflammation and swelling in the lungs
  • Mucus-thinning medications. These medications, such as hypertonic saline, help thin and loosen mucus to clear a person’s airways
  • Inhaled medications. Bronchial tube-relaxing drugs, called bronchodilators, relax the muscles around the bronchial tubes to ease breathing for the patient and can improve mucociliary clearance
  • Oral pancreatic enzymes. These drugs are used to help a person’s digestive system absorb important nutrients
  • Stool softeners. Constipation is a common symptom of cystic fibrosis; therefore, stool softeners aid in preventing bowel obstructions
  • Diabetic medications. These medications are used to control diabetes and prevent liver complications common to people with cystic fibrosis
Gene targeting medications
  • CFTR modulators (cystic fibrosis transmembrane conductance regulator). These medications target the CFTR protein to improve its function and allow for better breathing, increased weight gain, and reduced salt in sweat. The FDA has approved new and effective medications for treating cystic fibrosis that have positive outcomes.
Airway clearance therapies

Airway clearance techniques (chest physical therapy CPT) are used several times during the day to thin out mucus production and help relieve mucus obstruction, making it easier to cough it up. A combination of different therapies may be used.

  • Mechanical devices. Vest therapy involves an inflatable used to loosen mucus in the lungs. This involves a tube being used to blow into a machine, which pumps air into the lungs with the vibrating vest.
  • Exercise. Physical exercise can help loosen mucus
  • Manual therapy. Clapping with both hands cupped on the front and back of the chest loosens mucus
  • Breathing techniques. Breathing and coughing techniques are used to loosen mucus in the lungs
Pulmonary therapies

Pulmonary rehabilitation therapies are usually done at home. They involve daily activities designed to loosen mucus and aid breathing. Varied activities include:

  • Physical exercise helps loosen mucus
  • Breathing exercises and techniques are taught to patients to aid in loosening mucus
  • Nutritional intervention to prevent malnutrition from poor nutrient absorption
  • Mental counseling to help deal with this progressive disease
  • Stay abreast of new information on cystic fibrosis that continually becomes available
Surgery & additional techniques
  • Nasal surgeries. Polyps frequently form in the nostrils of people with cystic fibrosis because of continued inflammation; they can grow large and obstruct breathing. Chronic sinusitis is sometimes treated with surgery.
  • Oxygen therapy. Oxygen is used to maintain adequate oxygen saturation, and to prevent a patient from developing pulmonary hypertension from low oxygen levels
  • Ventilation. Non-invasive ventilation is utilized initially during sleep when indicated. The interface device can be a mask, nasal prong, or nasal pillow that is used to increase the pressure in the airways and lungs. This increase of air eases breathing and decreases the additional work put on the lungs.
  • Feeding tube. When indicated and after reviewing the risks and benefits, a feeding tube can be inserted into the nose and guided to the stomach, or a port might be surgically implanted in the abdomen. Both techniques allow for better nutrition since cystic fibrosis can adversely affect the digestive system. This device does not hinder a person from eating by mouth.
  • Bowel surgery. In rare circumstances, surgery is needed to correct intestinal obstruction after the failure of medical interventions
  • Lung transplant. Over time the airways of the lungs widen, making breathing difficult. Constant lung and sinus infections can lead to respiratory failure that could require a double lung transplant.
  • Liver transplant. Severe cases of cystic fibrosis that develop into cirrhosis of the liver could require a liver transplant. Sometimes multiple transplant surgery including the liver, lungs, and pancreas are performed.

FAQs

FAQs

Cystic fibrosis requires two of the same recessive, mutated CFTR genes—one from each parent—to produce a child with cystic fibrosis. If only one gene is inherited from one parent, the child will be a carrier of the condition but not show symptoms. Cystic fibrosis can only appear if a person with a mutated gene has a child with a person who also has a defective gene.

Cystic fibrosis causes thick mucus to form in the lungs, pancreas, and intestines. This thick mucus clogs the airways and passageways between the pancreas and the intestines. Additionally, male infertility is common with cystic fibrosis as this mucus also blocks the passage of sperm from the testes. These complications can result in malnutrition, inadequate growth, continual lung infections, and bowel blockage.

The average life expectancy of a person with cystic fibrosis is 53 years old. Lung deterioration and respiratory failure can lead to lung dysfunction and death in the majority of cases.

Cystic fibrosis is an inherited disease that requires two of the same defective genes—one from each parent—to be passed along to a child. If a person has only one of these defective genes, they are considered a carrier.

There are approximately 40,000 children and adults diagnosed with cystic fibrosis in the United States. An estimated 105,000 people have been diagnosed throughout 94 countries. Each year, about 1,000 new cases of cystic fibrosis are diagnosed; 75% of these cases involve children under 2 years old. More than 50% of the population with cystic fibrosis are 18 years or older.

A person must be born with cystic fibrosis. It is not transmittable to others. You cannot catch cystic fibrosis.

Get Care

Trust NewYork-Presbyterian for Cystic Fibrosis Treatment

NewYork-Presbyterian’s skilled doctors, surgeons, and professional team of experts proficient in the treatment of cystic fibrosis have joined together with The Sue and John L. Weinberg Cystic Fibrosis Center at NewYork-Presbyterian/Morgan Stanley Children’s Hospital to create a state-of-the-art screening center for newborns in New York State that is accredited by the Cystic Fibrosis Foundation.

NewYork-Presbyterian can alleviate some of the difficulties faced by people with cystic fibrosis. We have the knowledge and the experience to back up our claims. Learn about the symptoms people with cystic fibrosis experience and let NewYork-Presbyterian help keep you and your child healthy and amazing.