Cystic fibrosis is an inherited illness that leads to severe damage to the lungs, sinuses intestinal tract, pancreas and other body parts. Commonest presentation is in early childhood, however, patients can present in late childhood or adulthood. Disease is more common in west, however, it exists in this part of world and is grossly under diagnosed or diagnosed very late.
Symptoms of Cystic Fibrosis most often point to multisystem involvement. Symptoms also vary according to age of onset of disease. Single system involvement is more common in late childhood or early adulthood. The most common symptoms include:
Cystic fibrosis happens as an outcome of a defect in what is called the CFTR gene or ‘cystic fibrosis transmembrane conductance regulator’ gene. This gene is known to control the movement of salt and water in and out of the body’s cells. A sudden alteration, or change, in the gene, causes the mucus to become stickier and thicker than it should actually be. This abnormal mucus builds up in various organs throughout the body, including:
Many different faults can disturb the CFTR gene. The type of deficiency is connected to the severity of cystic fibrosis. The damaged gene is carry forwarded to the child from their parents. To have cystic fibrosis, a child is required to inherit one copy of the gene from the mother and father both. If they inherit one copy of the gene from just one parent, then they would not develop the disease. But, they will be a carrier of the defective gene, which means that they may pass the gene on to their own kids.
Cystic Fibrosis should be suspected in newborns with features of intestinal obstruction and later in children with multiple organ symptoms including repeated sinus or chest infections, offensive stools, repeated intestinal obstruction, poor weight gain. Older children and adults may have only single organ involvement. High index of suspicion is very important. Single most important test is increased salt content of sweat. In persons with indeterminate levels of salt content with other features suggestive of possibility of CF, CFTR genetic mutation needs to be studied. Antenatal diagnosis of CF is also possible.
CFTR modulators are a class of drugs that have a role in reducing rapidity of progression of the disease to a great extent if introduced early in life. It is possible for specific treatments to help in controlling the symptoms, preventing or reducing complications, and making the illness easier to live with. An individual with cystic fibrosis is usually supported by a team of healthcare professionals at a specialist cystic fibrosis center. A care plan is drawn up that is tailored according to their personal needs. A variety of treatments are used, and often treatment in hospital is required. Regular appointments to monitor the illness is also recommended.
Management of Cystic Fibrosis is a team approach that needs a dedicated team of doctors, physiotherapists and nutritionists. Goal should be to guide patients and family about need to prevent complications and slow down progression of disease while treating any complication promptly. This is only possible by regular follow up
