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Mucoviscidosis (Cystic Fibrosis): Symptoms, causes and treatment
Posted on Sep 02, 2015
Mucoviscidosis, which is also referred to as cystic fibrosis (CF) is a congenital disease wherein the lungs, intestines, and the pancreas become clogged with thick mucus due to damage to the cells that produce saliva, sweat, mucus, and digestive juices. Normally, these secretions are thin and slippery and act as a lubricant. The thick and sticky secretions block the ducts and passageways in the lungs and pancreas. If mucus is accumulated in the lungs, it can cause breathing problems, repeated lung infections, and lung damage. The accumulation of mucus in the pancreas can lead to digestive problems, preventing the digestive enzymes produced in the pancreas to reach the small intestine due to blockage in the pancreatic duct.

Causes of Cystic Fibrosis

This is a genetic disorder caused by a defective gene called cystic fibrosis transmembrane conductance regulator (CFTR). The protein produced by CFTR gene is responsible for regulating the normal movement of salt and water in and out of the cells. This defective gene causes thick, sticky mucus secretions in the digestive and respiratory tracts. It could also affect the reproductive system, thereby increasing the risk of infertility. There is an increased amount of salt in sweat. If both the parents carry the defective gene, then there are 25% chances that their child will be affected by this condition, 50% chances that the child will carry the defective gene, and 25% chances that the child will neither be a carrier nor be affected by this condition. Family history is the biggest risk factor for cystic fibrosis.

Signs and Symptoms of Cystic Fibrosis

The severity of the symptoms can vary from person to person. Some may either suffer from digestive problems or respiratory problems while others may suffer from both. Signs and symptoms may vary depending upon the age. In newborns, there may be a blockage in the intestine, causing bulky and greasy stools (steatorrhea). Newborns also suffer from frequent respiratory infections due to the accumulation of mucus in the lungs.

In children and young adults, symptoms include salty taste to the skin, diarrhoea, foul-smelling and greasy stools, thick sputum, delayed growth, frequent coughing or wheezing, chest and sinus infections with recurring bronchitis or pneumonia, dehydration, rectal prolapse, and enlargement of fingertips or toes. Some other medical conditions that are related to cystic fibrosis include nasal polyps, liver cirrhosis, and intussusceptions.

Treatment of Cystic Fibrosis

The treatment is aimed at preventing infections, removing thick mucus from the lungs, relieving respiratory and digestive problems, and maintaining adequate nutrition. There are different treatment options for respiratory and digestive problems.

Lung problems due to cystic fibrosis can be treated with drug therapy. Respiratory infections are common in people with cystic fibrosis. Antibiotics (oral, inhaled or intravenous) are administered in order to treat infections. Anti-inflammatory medications like ibuprofen might also be prescribed to decrease the inflammation in the lungs. While the use of bronchodilators like albuterol is suggested to relax the muscles around the airways, mucus-thinning drugs like hypertonic saline and acetylcysteine saline help reduce the stickiness of mucus in the airways. Oxygen therapy is administered to increase the levels of oxygen in the blood. If the patient shows increasing resistance to antibiotics, and severe pulmonary complications, then lung replacement is recommended.

Cystic fibrosis can be managed by following drug therapy and lifestyle modification. Following a balanced diet and exercise regimen will certainly prove beneficial.
Written by : Lazoi Team
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