Cystic fibrosis (CF) is a chronic disorder that affects the lungs and digestive system. The disease is caused by abnormal secretion of very thick and sticky mucus in the body. The secretion of this mucus clogs the lungs, leading to infections, and blocks the pancreas, which prevents the normal breakdown of food by the digestive system.

Cystic fibrosis is a complex disease that is caused by a defective gene. Those affected by the disease inherit two copies of a defective gene that produces a defective protein. This protein leads to mucus secretion in the lungs, pancreas, and other organs. Clogging of the lungs induces breathing difficulties and inflammation in the lungs. Mucus in the pancreas leads to malnutrition and stunted growth.

Cystic fibrosis in children
The cell protein cystic fibrosis transmembrane regulator (CFTR) malfunctions in children diagnosed with cystic fibrosis. The function of CFTR is to control the flow of water and certain salts into and from the body cells. Altered movement of salts and water can result in thickening of the mucus. The respiratory, reproductive, digestive systems and sweat glands are affected by this disease. A number of children are diagnosed with CF even before they show any signs or symptoms. Early symptoms of CF in children are:

• Respiratory symptoms like coughing, wheezing, or breathlessness
• Meconium ileus: Sticky and thick first bowel movement of a baby that blocks the small intestine.
• Stunted growth: Inadequate weight gain after birth

As the child grows, the symptoms of CF keep changing. Common childhood symptoms include:

• Salty-tasting skin
• Lung infections
• Stunted growth
• Bulky and greasy stools
• Chronic respiratory issues
• Constipation

Diagnosis of cystic fibrosis
The first step in the diagnosis of cystic fibrosis is complete physical examination and evaluation of family and medical history. The diagnostic tests for CF include:

• Sweat test
  This test determines the amount of chloride in the sweat. A solution is placed on the forearm or the thigh in case of very small children. Electrodes are attached to the part where the solution is placed. A mild electric current is passed to stimulate the skin. The sweat is collected and analyzed for the chloride content. High amounts of chloride suggest CF.
• Genetic tests
  Blood or cells taken from the cheek swab are tested for CFTR gene mutations.
• Blood tests
  These tests determine the pancreatic function and presence of an infection.
• Chest X-Rays
  Respiratory issues can be tested through chest X-rays.
• Pulmonary function tests
  These tests determine the lung’s ability to exchange oxygen and carbon dioxide.
• Sputum tests
  The sputum coughed out is sent through culture test to check for any infection.
• Stool evaluation
  The fat absorption levels are evaluated through these tests.

The treatment options for cystic fibrosis have improved significantly, thereby, increasing life expectancy. Over 30,000 children and adults are diagnosed with CF every year. A number of specialized CF care centers have come up, which enable patients to live longer and lead lives of better quality.