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Cystic Fibrosis

 

What is Cystic Fibrosis? 
Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, affecting the mucus and sweat glands. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. CF affects mostly lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes the mucus to be thick and sticky, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage.

Signs and symptoms
Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until their teenage years or adulthood. 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. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of CF affect the respiratory system and digestive system.

Children with cystic fibrosis
There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), and CF can affect people of every racial and ethnic group. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond.

Diagnosis of cystic fibrosis
Cystic fibrosis can be diagnosed by newborn screening within the first month of life, before symptoms develop. Cystic fibrosis requires consistent, regular follow-up with your doctor, at least every three months.

Sources and useful links:
Cystic Fibrosis Foundation 
Mayo Clinic

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