Cystic Fibrosis

Symptoms of cystic fibrosis can vary and may worsen or improve over time. Depending on the severity of the disease, some people may not notice symptoms until they are in their teenage or young adult years. These include: 

• Salty-tasting skin 
• Persistent cough with thick mucus 
• Wheezing 
• Recurring lung infections 
• Recurring sinus infections 
• Nasal polyps 
• Foul-smelling, greasy stools 
• Chronic or severe constipation  
• Poor weight gain and growth 

The effects of cystic fibrosis 

• Airways: Thick, sticky mucus clogs air passages, preventing mucus and inhaled contaminants from being removed from the airway. Repeated lung infections can lead to lung damage, causing breathing problems and difficulty getting enough oxygen into the body. 
• Liver: Bile in the liver and gallbladder is thick and has difficulty moving into the intestine, potentially causing inflammation and scarring of the liver. 
• Pancreas: Because pancreatic secretions are abnormally acidic, digestive enzymes are unable to reach the intestine, leading to incomplete digestion and poor absorption of nutrients. Lack of nutrition prevents normal growth in babies and children. 
• Intestine: The earliest clinical manifestation of CF, occurring in 13 to 17 percent of infants with CF, is meconium ileus. This bowel obstruction happens when the meconium (the first stool after birth) in a child’s intestine is even thicker and stickier than normal meconium, creating a blockage in the ileum, a part of the small intestine. 
• Fertility: 97% of male CF patients and 20% of females are infertile. Thick secretions in the sperm canal can block sperm from getting through. Women are often able to conceive but may have decreased fertility because of thick cervical mucus blocking the entry of sperm. 
• Sweat glands: The sweat of people with CF has a high concentration of chloride and sodium. This effect is not harmful but was an indicator in the early days of diagnosing CF.

How UI Health Care experts diagnose cystic fibrosis 

In 2006, a cystic fibrosis screening was added to the required Iowa Newborn Screen for every newborn. Now, cystic fibrosis is usually diagnosed within the first month of life, before symptoms begin to develop.  

If your child's screen comes back positive for CF, they will be referred to an accredited CF center for a confirmatory test called a sweat test. Additional testing is sometimes required to confirm a diagnosis: 

• Diagnostic sweat testing: Testing the salt levels of the child's sweat  
• Nasal potential difference: Testing for potential differences in nasal measurements 
• Genetic evaluations: Testing is completed to identify CFTR mutations 

Sweat testing and genetic evaluations may also be needed for persons who have signs and symptoms of CF regardless of their newborn screening results. Adults and older children may not have received screening at birth.  

The University of Iowa Stead Family Children’s Hospital Cystic Fibrosis Family Advisory Board is a group of volunteers who meet often with clinic staff to help improve the clinic and cystic fibrosis care. Composed of parents and children seen at our center, they are available to connect with you about any of your CF questions and concerns. 

Cystic Fibrosis Foundation: A nation-wide organization that advocates for persons and families with CF.  

CF Foundation—Iowa Chapter   CF Peer Connect  using gene therapy to treat CF