2What is Cystic Fibrosis? Cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is one of the most common chronic lung diseases in children and young adults, and may result in early death.
3FactsCystic fibrosis (CF) is caused by a defective gene which causes the body to produce abnormally thick and sticky fluid, called mucus.This collection of sticky mucus results in life-threatening lung infections and serious digestion problems.
4HowMillions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes -- one from each parent. An estimated 1 in 29 Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent.Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18 or older. These patients usually have a milder form of the disease.
5HowCF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease.CF is most common among Caucasians; one in 25 people of European descent carry one gene for CF.Approximately 30,000 Americans have CF, making it one of the most common life-shortening inherited diseases in the United States.
6HowThe most common mutation, ΔF508, is a deletion (Δ) of three nucleotides that results in a loss of the amino acid phenylalanine. This mutation accounts for two-thirds (66-70%) of CF cases worldwide and 90 percent of cases in the United States; however, there are over 1,400 other mutations that can produce CF. Although most people have two working copies (alleles) of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither allele can produce a functional CFTR protein.
9SymptomsBecause there are more than 1,000 mutations of the CF gene, symptoms differ from person to person.Symptoms in newborns may include:Delayed growthFailure to gain weight normally during childhoodNo bowel movements in first 24 to 48 hours of lifeSalty-tasting skinSymptoms related to bowel function may include:Belly pain from severe constipation
10SymptomsIncreased gas, bloating, or a belly that appears swollen (distended)Nausea and loss of appetiteStools that are pale or clay colored, foul smelling, have mucus, or that floatWeight lossSymptoms related to the lungs and sinuses may include:Coughing or increased mucus in the sinuses or lungsFatigueNasal congestion caused by nasal polypsRecurrent episodes of pneumonia. Symptoms in someone with cystic fibrosis include:FeverIncreased coughingIncreased shortness of breathLoss of appetiteMore sputumSinus pain or pressure caused by infection or polyps
12Treatment Treatment for lung problems includes: Antibiotics to prevent and treat lung and sinus infections. They may be taken by mouth, or given in the veins or by breathing treatments. People with cystic fibrosis may take antibiotics only when needed, or all the time. Doses are usually higher than normal.Inhaled medicines to help open the airwaysDNAse enzyme replacement therapy to thin mucus and make it easier to cough upFlu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly (ask your health care provider)Lung transplant is an option in some casesOxygen therapy may be needed as lung disease gets worse
13Treatment Treatment for bowel and nutritional problems may include: A special diet high in protein and calories for older children and adultsPancreatic enzymes to help absorb fats and proteinVitamin supplements, especially vitamins A, D, E, and KYour doctor can suggest other treatments if you have very hard stoolsCare and monitoring at home should include:Avoiding smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildewClearing or bringing up mucus or secretions from the airways. This must be done one to fours times each day. Patients, families, and caregivers must learn about doing chest percussion and postural drainage to help keep the airways clearDrinking plenty of fluids. This is particularly true for infants, children, in hot weather, when there is diarrhea or loose stools, or during extra physical activity
14PrognosisMost children with cystic fibrosis are fairly healthy until they reach adulthood. They are able to participate in most activities and should be able to attend school. Many young adults with cystic fibrosis finish college or find employment.Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is approximately 35 years, a dramatic increase over the last three decades.Death is usually caused by lung complications.
15PreventionThere is no way to prevent cystic fibrosis. Screening those with a family history of the disease may detect the cystic fibrosis gene in % of carriers, depending on the test used.