Cystic

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the finger and toes, and infertility in most males among others. Different people may have different degrees of symptoms.

Causes

CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive fluids, and mucus. CFTR mutations cause the CFTR protein not to work or to be made in too small amounts, leading to thick, sticky mucus in the lungs, pancreas, and other organs.

Diagnosis

Diagnosis is by a sweat test and genetic testing. Screening of infants at birth takes place in some areas of the world.

Treatment

There is no known cure for cystic fibrosis. Lung infections are treated with antibiotics which may be given intravenously, inhaled, or by mouth. Sometimes the antibiotic azithromycin is used long term. Inhaled hypertonic saline and salbutamol may also be useful. Lung transplantation may be an option if lung function continues to worsen. Pancreatic enzyme replacement and fat soluble vitamin supplementation are important, particularly in the young. People with CF may be helped by various types of physical therapy.

Prognosis

While infants born with cystic fibrosis were previously unlikely to live beyond their early childhood, today, with advanced treatment methods, patients can live into their 30s, 40s, and beyond.

See also

• Genetic disorder
• Lung disease
• Pancreatic disease

External links

• Cystic Fibrosis Foundation
• NHS - Cystic Fibrosis

Cystic Resources
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