CYSTIC FIBROSIS

Symptoms• In newborns:

– Delayed growth– Failure to gain weight normally during childhood– No bowel movements in first 24 to 48 hours of life– Salty-tasting skin

• Related to bowel function:– Belly pain from severe constipation– Increased gas, bloating, or a belly that appears swollen

(distended)– Nausea and loss of appetite– Stools that are pale or clay colored, foul smelling, have mucus, or

that float– Weight loss

Symptoms Continued• Related to the lungs and sinuses:

– Coughing or increased mucus in the sinuses or lungs– Fatigue– Nasal congestion caused by nasal polyps– Sinus pain or pressure caused by infection or polyps– Recurrent episodes of pneumonia. Symptoms in someone with

cystic fibrosis include:• Fever• Increased coughing• Increased shortness of breath• Loss of appetite• More sputum, saliva mixed with discharges from the respiratory

passages

Prognosis• Children with cystic fibrosis are fairly healthy until

they reach adolescence or adulthood.– They can participate in most activities and attend

school. – They can finish college or find employment.– Lung disease eventually worsens to the point where

the person is disabled. – The average life span for people with CF who live to

adulthood is approximately 35 years– Death is usually a result of lung complications.

Treatment• For lung problems:– Antibiotics to prevent and treat lung and sinus

infections– Inhaled medicines to help open the airways– DNase enzyme replacement therapy to thin mucus and

make it easier to cough up– Flu vaccine and pneumococcal polysaccharide vaccine

(PPV) yearly– Lung transplant (is optional)– Oxygen therapy may be needed as lung disease

progresses

Treatment Continued• For bowel and nutritional problems:– A special diet high in protein and calories for older

children and adults– Pancreatic enzymes to aid in absorbing fats and

proteins– Vitamin supplements, especially with vitamins A, D, E,

and K

Treatment Continued• At home:– Avoiding smoke, dust, dirt, fumes, household

chemicals, fireplace smoke, and mold or mildew– Clearing mucus or secretions from the airways

(done 1-4 times per day)– Drinking plenty of fluids– Exercising two or three times each week

Prevention• There is no way to prevent cystic fibrosis:– Screening people with a family history of the disease may

detect the cystic fibrosis gene in 60 - 90% of carriers (depending on the test used

• Tests & diagnosis:– blood tests available to help detect CF

• test looks for variations in a gene known to cause the disease– Immunoreactive trypsinogen (IRT) test is a standard newborn

screening test for CF• high level of IRT suggests possible CF and requires further testing

– Sweat chloride test is the standard diagnostic test for CF• high salt level in the patient's sweat is a sign of the disease

Prevention Continued• Other tests:– Chest x-ray or CT scan– Fecal fat test– Lung function tests– Measurement of pancreatic function – Secretin stimulation test– Trypsin and chymotrypsin in stool– Upper GI and small bowel series

THEEND!