What is cystic fibrosis?
Cystic fibrosis (CF) is an inherited disease that affects many organs in the body, including the lungs and the digestive system. It is an autosomal recessive disorder, which means that two copies of a defective gene must be present in order for CF to develop. The defective gene produces an abnormal protein that acts as a chloride channel. Malfunction of this channel results in thick and sticky mucus and very salty sweat.
This thick mucus clogs up the lungs, leading to airway damage and lung infection which cause breathing difficulties. It can also clog the ducts of pancreas. This prevents digestive enzymes from reaching the intestine where they are needed to break down fat and protein for absorption.
Over time, thickened secretions may also cause damage to the pancreas, preventing it from producing normal amounts of insulin and eventually leading to diabetes.
Children with CF require daily care but are able to attend school and participate in activities. New therapies have led to better and longer lives for people with CF.
What are the symptoms of cystic fibrosis?
Newborn screening for CF has led to diagnosis at birth, before any symptoms occur. A common early symptom is the production of very salty sweat, which parents notice when kissing their babies. Other early CF symptoms include abdominal pain and irritability after feeding, with a failure to gain weight. Ongoing symptoms affect the respiratory and digestive systems.
Digestive symptoms of CF include:
- Poor weight gain despite a good appetite
- Abdominal pain, gas, bloating
- Vitamin deficiencies, especially vitamins A, D, E, K
- Frequent loose, foul smelling stools
Respiratory symptoms of CF include:
- Difficulty breathing/shortness of breath
- Constant cough with thick mucus
What causes cystic fibrosis?
CF is caused by a defect in a gene that codes for a protein known as the cystic fibrosis transmembrane conductance regulator (CFTR). This protein controls the movement of salt and water to and from the body’s cells.
Children need to inherit one copy of the gene from each parent in order to have the disease. Children who inherit only one gene won't develop CF but they will be carriers and could pass the gene to their own children.
How is cystic fibrosis diagnosed?
Most children with CF are diagnosed at birth through newborn testing. Your doctor may also perform a sweat test on your infant if CF is suspected. A sweat test involves the collection and testing of your newborn’s sweat to see if it is saltier than usual. The test is painless and takes about one hour.
CF can also be diagnosed through genetic testing. Genetic testing can also look for the type of defect that is causing the disease, which can also help doctors understand the severity of the disease.
How is cystic fibrosis treated?
Columbia University Irving Medical Center has pioneered CF diagnosis and treatments, including the identification of CF as separate from celiac disease and the use of the sweat test that continues to be the gold standard of diagnostic tests. Our Cystic Fibrosis Center is an accredited care center by the Cystic Fibrosis Foundation. Your child will be treated by a team of experts who work together to address the complex nature of this disease.
Early intervention and treatment from a team of specialists will help reduce complications and improve your child’s quality of life. Your child’s treatment plan may include medication, chest physical therapy, nutritional assessment, sleep counseling, exercise, and, when complications occur, surgery.
Management of CF is focused on:
- Removing mucus from the lungs: People with CF clear their airways several times a day. There are several techniques for airway clearance which range from tapping the chest with cupped hands to using a mechanical device.
- Prevention and treatment of lung infections: Medications to improve lung function include inhalation therapies such as bronchodilators, mucous modifying agents including hypertonic saline and dornase alfa, and, in some cases, inhaled antibiotics.
- Strengthening the lungs: Physical exercise and breathing techniques can help strengthen child’s lungs.
- Prevention and treatment of intestinal obstruction: Stool softeners can help reduce constipation associated with CF and prevent obstruction.
- Nutrition counseling: Nutrition is a critical part of your child’s treatment throughout his or her life. About 85 percent of patients with CF take pancreatic enzyme replacements to help them digest and absorb their food. Patients with CF also require more calories than other patients because of the increased energy demands due to coughing and the increased work of breathing.
- Sleep hygiene: Sleep is an important part of health management. Columbia’s Cystic Fibrosis Center includes two board-certified sleep specialists, one of whom is the director of the CF center, who will work with your family to ensure your child gets adequate sleep.
Children who require surgical intervention or procedures are treated at NewYork-Presbyterian Morgan Stanley Children’s Hospital, one of the top children’s hospitals in the New York metropolitan area.