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Cystic fibrosis Causes and Risks:
Cystic fibrosis affects the exocrine (mucus and sweat) glands of the body and is caused by a defective gene. Thick mucus is formed in the bronchial tree which predisposes the person to chronic lung infections. Many pancreatic enzymes involved in the breakdown and absorption of fats in the intestine are absent causing malabsorption (inadequate absorption of nutrients from the intestinal tract) and malnutrition . About one in 2500 Caucasians is affected and one in 25 is a carrier of the cystic fibrosis gene. It is the most common cause of chronic lung disease in children and young adults, and the most common fatal hereditary disorder affecting Caucasians in the US. Risk factors include a family history of cystic fibrosis or unexplained infant death. The incidence in adults is 2 out of 10,000 people.
Prevention:
Screening of family members of a cystic fibrosis patient may detect the cystic fibrosis gene in up to 75% of carriers.
Symptoms:
Signs and Tests:
This disease may also alter the results of the following tests:
Treatment:
Early recognition of cystic fibrosis and a comprehensive, multidisciplinary treatment program can lengthen survival time and improve the quality of life. Speciality clinics for cystic fibrosis are present in many communities.
Medications include antibiotics for respiratory infections and pancreatic enzymes to replace the missing enzymes. Mucomyst may be used on occasion to thin secretions.
A recent study showed that the pain reliever ibuprofen can slow lung deterioration in some children with cystic fibrosis. The results were most dramatic in children ages 5 to 13. More research is currently being done.
Other treatments include postural drainage and chest percussion , and other breathing treatments.
Lung transplant may be considered in some cases.
New treatments include replacement of the DNAase enzyme. This is available as a medication called dornase. Genetic research is ongoing in hopes of correcting the disease by artificially inserting a "normal" gene into the person. Using retroviruses to insert operating genes into the lungs has proven effective. Research on possible methods used to correct the disorder before birth also looks promising.
Support Groups:
The stress of illness can often be helped by joining a support group where members share common experiences and problems. See cystic fibrosis - support group .
Prognosis:
About half of the children with cystic fibrosis live beyond age 20. Few live beyond 35. Death occurs from pulmonary (lung) complications.
Complications:
Call Your Healthcare Provider:
Call your health care provider if symptoms develop that suggest an infant or child may have cystic fibrosis.
Call your health care provider if a person with cystic fibrosis develops new symptoms, particularly severe breathing difficulty .
Clubbing results from chronic low blood-oxygen levels. This can be seen with cystic fibrosis, congenital cyanotic heart disease, and several other diseases. The tips of the fingers enlarge and the nails become extremely curved from front to back.
This individual has Tetrology of
Fallot, a type of heart disease present from birth (congenital) that causes the skin to appear bluish (cyanosis). This photograph shows both cyanosis, and broadening of the fingertips with loss of the angle between the nail and quick and rounding of the nail (clubbing). Diseases which result in decreased oxygen in the blood often have associated clubbing.
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