Cystic Fibrosis

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General Information

Cystic Fibrosis Week

Cystic fibrosis is the most common genetic disease that affects mortality in Caucasians. About 30,000 people with this disease live in the United States. The basic problem of cystic fibrosis is with salt and water movement within and between cells. The lung is the organ responsible for the most significant symptoms, sickness, and death, although other organs with secretory function are part of the syndrome.

Over the last 4 decades, the mean survival has increased from preteen to more than 39 years. Always considered a pediatric illness, now more than half of the patients are adults, thanks to the advances in care for these persons.

The major breakthrough was the discovery in 1989 of the hereditary defect accounting for this disease, which is in the cystic fibrosis transmembrane regular (CFTR) gene. The protein made by this gene controls the transport of chloride and other ions, such as sodium and bicarbonate in all secreting glands. If it is not present or malfunctioning, secretions become thick and viscous in the lungs and other affected organs and there is an increased chloride in sweat.

The discovery of the CFTR gene has led to finding patients with milder or atypical illness that often can affect only a single organ. People with CFTR-gene related illness may have isolated bronchiectasis, chronic pancreatitis, or azoospermia, and they may not seek medical attention until adulthood.

The diagnosis is made by finding the syndrome of clinical problems, an elevated sweat chloride, and defects in the CFTR gene on genetic testing. All newborns are now screened for cystic fibrosis and it is now the main way to make the diagnosis.

The main treatment for most patients is careful monitoring and treating of lung infections, replacing pancreatic enzymes as needed, attending to other organ involvement, and encouraging activity, fitness, and good nutrition.

Common major problems in persons with cystic fibrosis face include chronic bronchitis and bronchiectasis with antibiotic resistant organisms, asthma, sinusitis and nasal polyps, attacks of pancreatitis, loss of lung and pancreatic function (including diabetes), gastrointestinal disturbances that may lead to malnutrition, liver disease, and harm from treatments, such as side effects from antibiotics. The primary diseases can cause a host of secondary illnesses and loss of organ function

Prevention, treatment, management

The advent of CFTR testing has allowed identification of couples with a risk for CF; by using modern reproductive technologies they can avoid having a baby with cystic fibrosis. Neonatal screening has identified individuals early so that they may get early nutritional support and pancreatic enzymes before they have symptoms and poor growth.

In addition to antibiotics and pancreatic enzymes, inhaling hypertonic saline and dornase alfa, and carrying out maneuvers to clear thick bronchial secretions have been helpful in treating CF. Regular follow up by a specialist in CF, frequent sputum cultures, and annual pulmonary function tests can help identify problems at an early stage.

Several new drugs have now become available and others are being developed that target specific defects. These can overcome the specific type of CFTR mutation and help improve salt transport across cells.

In summary, medical progress has made this lethal genetic disease manageable. Research has brought great understanding, increased life expectancy, and higher quality of life, and many new positive things are on the horizon.

Four Facts About Cystic Fibrosis

  1. Cystic fibrosis (CF) is an inherited chronic disease that leads to life-threatening lung infections and digestive problems. It is a rare disease, affecting 30,000 children and adults in the United States (70,000 worldwide). Currently, there is no cure for the disease and the median predicted age of survival is in the late 30s and rising.

  2. More than 10 million Americans are symptomless carriers of the defective CF gene.

  3. All babies born in the United States are screened for CF at birth as part of newborn screening (NBS).

  4. Ivacaftor (Kalydeco™), the first therapy targeting the basic defect in CF, was approved by the U.S. Food and Drug Administration in 2012.