Rainbow Pediatrics Knowledgebase


		Knowledgebase: Information on Specific Illnesses Here you will find discussions of specific illnesses and their management. 42. Cystic Fibrosis - Top Definition An inherited disease that affects the respiratory and digestive systems. Causes, Incidence and Risk Factors 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. Symptoms no meconium stool in first 24 hr. of life stools, pale or clay colored and foul smelling stools - floating skin may taste salty (infants) persistent respiratory infections such as pneumonia coughing or wheezing weight loss clubbing of the fingers or toes diarrhea delayed growth easy fatigue splenomegaly Signs And Tests sweat chloride test fecal fat bone X-ray chemistry panel (see chem-20) upper GI and small bowel series immunoreactive trypsinogen This disease may also alter the results of the following tests: trypsin and chymotrypsin in stool secretin stimulation test chest MRI 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. Expectations (Prognosis) About half of the children with cystic fibrosis live beyond age 20. Few live beyond 35. Death occurs from pulmonary (lung) complications. Complications pneumonia pneumothorax chronic respiratory failure cor pulmonale Calling Your Health Care 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. Prevention Screening of family members of a cystic fibrosis patient may detect the cystic fibrosis gene in up to 75% of carriers. - Updated: March 5, 2001 [e-Mail me the Knowledgebase]- [Search our Knowledgebase] - [Question Not Answered?]
James L Horwitz, MD David C. Thomas, MD Barbara Lindberg, PNP