Cystic Fibrosis - Symptoms - CFTR mutation - Diagnosis - Treatment - Prognosis

Cystic fibrosis (CF) is a disease that has no cure. However, in the recent years there are high-impact treatments available that help a great deal to control symptoms and to improve the overall quality of the patients' life.

The primary goals of the treatment involve-

• Loosening and removing mucus from the lungs

• Removing intestinal blockages and providing adequate nutrition

• Preventing dehydration

a) Lung Problems

Treatments for lung problems in CF patients include-

• Chest Physical Therapy

Also is called ‘chest clapping’ or percussion it involves pounding the patient’s chest with hands, or with devises such as electric chest clapper, to release the accumulated mucus from the lungs so that the patient can cough it out. This can be done with the patient sitting or, lying on his stomach. Breathing exercises too can loosen the phlegm and help to relax.

• Exercise

Aerobic exercises too help to loosen the mucus and to improve the general physical condition. But while exercising a lot of salty sweat is generated which leads to a loss of salt and minerals from the body. This can be countered by taking a high-salt diet.

• Medications

Medications to prevent or treat infections and inflammations, to open the airways and to thin mucus are usually administered. These drugs include antibiotics, anti-inflammatory medicines, bronchodilators or mucus-thinning medicines and they are usually administered orally or intravenous methods. Inhaled antibiotics are used to treat infections caused by the bacteria Pseudomonas.

Advanced lung disease may need oxygen therapy given through nasal prongs or a mask.

If all other treatments fail then a lung transplant may be a good option.

b) Digestive Problems

Nutritional therapy can take care of the malnutrition and vitamin deficiency that is common to CF patients. It involves-

• Taking a well-balanced diet

• Intake of Oral pancreatic enzymes to help in digestion and absorption

• Vitamin A, D, E, and K supplements 

• High-calorie nutrient-filled shakes 

• A high-salt diet or salt supplements usually taken before exercise 

• A feeding tube may also be used in the night to give more calories

Some children with CF might present with celiac disease. In children with failure to thrive due to malabsorption it is advised to screen for serum antigliadlin.. Gluten based diet should be avoided in such cases. Some develop diabetes and require ddiffeent diet regimen.

Diet requires pancreatic enzyme supplementation, a high fat, high salt, and calorie dense diet helps with the child’s growth.

Digestive problems may also be treated with enemas and mucus-thinning medicines to remove intestinal blockages. In extreme cases a surgery may be required.

c) Diabetes and osteoporosis which are complications associated with cystic fibrosis are also treated with suitable medications.

Improved methods of treatment has contributed to increased life span of the affected individuals. The affected individuals are now living well into their forties and even fifties-a thing which was unheard of in the past.

d) Gene therapy - Much has been anticipated in terms of gene therapy as a cure for cystic fibrosis. However, it has still not been proven to be a cure. Scientists have taken nasal cells from CF patients and incorporated normal CFTR genes in them. The new gene has been able to produce the normal form of the CFTR protein too.

However, all this experimentation has been in vitro as a proper system to deliver the modified gene in vivo is still not in place. Besides it has been found that the cells into which the new gene is delivered find it difficult to assimilate the carrier molecule and to express the modified gene.

All these obstacles will have to be overcome for gene therapy to take off successfully. A lot of work is going on. Hopefully the day is not too far off when a complete cure is possible!

e) Recent research - Scientists at the Perinatal and Pulmonary Biology at Cincinnati Children's Hospital Medical Center, USA, have discovered the basic mechanism or “switch” that controls excessive mucus production in lung diseases such CF, asthma and even the humble common cold.

Healthy lungs produce a fair amount of mucus (that are sugar – coated proteins) to get rid of contaminants and protect the body. In those with respiratory illnesses, the lungs get clogged, due to excessive mucus secretion and accumulation, the reason(s) for which is not clearly known. Understanding the underlying mechanism of this mucus hyper production could pave way to new treatment modalities.

Current studies have revealed that the beneficial Clara cells of the lungs transform to goblet cells, through a process called metaplasia, and cause excessive mucus production. Metaplasia has been found to be controlled by a specific genetic switch. Research has revealed that metaplasia can be reversed and that the goblet cells can even be reversed to Clara cells if the genetic switch is blocked. This information holds a lot of scope for future therapies.

The gene SPDEF has been discovered to be involved in normal mucus production in healthy lungs and other organs. An inflammatory response induced in experimental mice increased SPDEF expression dramatically in the lung tissue, resulting in the excessive production of thick mucus. Switching off the SPDEF gene in the mice lungs ensured that there was no inflammatory response or excess mucus production.

The discovery of this genetic ‘switch’ is bound to benefit scores of patients suffering from mucus hyperproduction due to diseases such as cystic fibrosis. Although the work has been a break through in mice it will be some years before it can be translated to a therapy for CF patients.