Cystic Fibrosis

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General Information About Cystic Fibrosis

Cystic Fibrosis Week

General Information About Cystic Fibrosis

Cystic fibrosis affects 30,000 children and adults in the United States.  Most prevalent in Caucasians, cystic fibrosis is also found in other ethnic groups and races. An autosomal recessive defect, occurring in approximately 1 in 3500 live births based on data from newborn screening programs, the life expectancy of a child born with cystic fibrosis has gradually increased in the United States. Although cystic fibrosis is a multisystem disease involving the pancreas, intestines, liver, skin, and male genitourinary tract, much of the morbidity and mortality results from progressive airway involvement. Pulmonary disease in cystic fibrosis is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel located on the surface of airway epithelial cells and submucosal glands.  The CFTR is functionally linked to other apical chloride channels in the airway, and mutations lead to not only reduced chloride conductance but also dysregulation of other channels, resulting in dehydration of the airway surface.  These desiccated secretions and thickened mucus obstruct the airways and impair mucociliary clearance, thus rendering the lung susceptible to infection.  Moreover, the other defenses in the airways are defective and interfere with bacterial killing.  Infection then stimulates an intense inflammatory response that leads to the destruction of the conducting airways (bronchiectasis), progressive respiratory insufficiency, and shortens the life of the patient.

All 50 states have newborn screening for cystic fibrosis, though the screening approaches vary.  The only reliable diagnostic test is the quantitative pilocarpine iontophoresis test, more commonly known as the sweat test, which should be performed according to Clinical and Laboratory Standards Institute (CLSI) guidelines at a Cystic Fibrosis Foundation-accredited care center.  In addition, genetic testing for mutant CFTR alleles should be performed to confirm the diagnosis and in some cases direct therapy.

The therapeutic goal for cystic fibrosis lung disease is preservation of function.  Treatment typically involves regular airway clearance techniques, inhaled mucolytic agents, and nebulized antibiotics.  More recently, novel drugs have emerged that correct specific CFTR mutations and restore airway surface liquid.  These and other agents have the potential to forever change the course of cystic fibrosis lung disease.

The ATS and its Public Advisory Roundtable are committed to the idea that research leads to cures.  These advances greatly depend on education, advocacy, and research partnerships formed between patients, parents, clinicians, and scientists.  Increased research funding will allow us to better understand the pathophysiology of cystic fibrosis lung disease, especially early in life, and advance treatments for the many patients and families we serve.


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 andthe 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.