Cystic fibrosis (CF) is an inherited disease characterized by an abnormality in the body's salt, water- and mucus-making cells. While it is a chronic, progressive disease improved treatments have significantly extended life expectancy. Most people with CF live into their late 30s, and many even into their 50s or longer. Some CF patients now live into their 70's.
Children with CF have an abnormality in the function of a cell protein called the cystic fibrosis transmembrane regulator (CFTR). CFTR controls the flow of water and certain salts in and out of the body's cells. As the movement of salt and water in and out of cells is altered, mucus becomes thickened. The thickened mucus can affect many organs and body systems including:
- Respiratory. This includes sinuses and lungs.
- Digestive. This includes pancreas, liver, gallbladder, and intestines.
- Reproductive. Both men and women may experience reproductive problems
- Sweat glands
About 30,000 people in the U.S. are affected with the disease. It occurs mainly in whites who have a northern European heredity, although it also occurs in Hispanics, African-Americans, Asian Americans, and American Indians.
More than 10 million people in the U.S. are carriers of the cystic fibrosis gene. These people are not affected by the disease, and usually do not know that they are carriers.
Symptoms of Cystic Fibrosis
What are the symptoms of cystic fibrosis?
Many children today are diagnosed with cystic fibrosis (CF) before they have any symptoms. This is because of an increase in newborn screening programs. Before screening programs existed, most children with CF were diagnosed after one of the following:
- Respiratory symptoms. Most commonly cough, wheezing, or breathing difficulty.
- Meconium ileus. A thick and sticky first bowel movement of a baby that can block the small intestine.
- Failure to thrive. Not gaining weight as is normal after birth.
The following are the most common symptoms for CF. However, each child may experience symptoms differently. Symptoms also may depend on when your child is diagnosed.
Symptoms may include:
- Salty tasting skin
- Chronic respiratory symptoms like wheezing, cough, and colored sputum
- Lung infections
- Poor growth
- Greasy and bulky stools
Other medical problems
These are other medical problems that may occur in some children with CF:
- Sinusitis or infection of the sinuses
- Nasal polyps or an abnormal growth out of the mucus membranes of the nose
- Clubbing of fingers and toes. This is a condition marked by the ends of the fingers and toes become enlarged. It occurs more often in the fingers.
- Pneumothorax or collapsed lung. The presence of air or gas in the plural cavity causes the lung to collapse.
- Hemoptysis, or coughing up blood
- Cor pulmonale. Right-sided heart failure from long-term high blood pressure in the lung arteries.
- Abdominal pain
- Gas in the intestines
- Rectal prolapse or a protruding of the rectum out of the anus
- Liver disease
- Pancreatitis. This is an inflammation of the pancreas, an organ that creates many hormones and enzymes the body needs to function properly.
- Congenital bilateral absence of the vas deferens in males
As stated above, the symptoms of CF differ for each child. Infants born with CF usually show symptoms within the first year. Some children, though, may not show symptoms until later in life. The following symptoms may indicate CF, and infants having these signs may be tested for CF:
- Diarrhea that doesn’t go away
- Foul-smelling stools
- Greasy stools
- Frequent episodes of wheezing
- Frequent episodes of pneumonia
- Persistent cough
- Skin tastes like salt
- Poor growth
- Chronic sinus infection
The symptoms of CF may resemble other conditions or medical problems. Always consult your child's doctor for a diagnosis.