CYSTIC FIBROSIS: SYMPTOMS

The degree of severity of symptoms in patients with cystic fibrosis is variable and doesn’t show any specific pattern of occurrence or expression. The basic problem in all patients with cystic fibrosis is defective cystic fibrosis transmembrane conductance regulator gene, which causes abnormal function of exocrine glands that secretes mucus or sweat. The excessive secretion of sweat in patients causes imbalance and excessive loss of mineral in the body, which produced abnormal heart functioning and can lead to going in into shock. Similarly, excessive secretion of thick and sticky mucus intestine and pancreas, lead to occurrence of digestive problems, stunted growth and greasy stools. The clogging of respiratory tract due to excessive secretion of mucus in patient with cystic fibrosis can clog the lungs, cause frequent respiratory infections, breathing problem and permanent lung damage.

The patients with cystic fibrosis can also be diagnosed with various other medical problems like nose polyps, sinusitis, swelling and enlargement of fingers and toes, heart enlargement, pancreatic inflammation, pnuemothrax, liver diseases, abdominal pain and stones in gall bladder. Various other symptoms like protrusion of rectum through anus, delayed puberty and absence of Vas deferens in males are also observed in patients, Liver cirrhosis can also be caused in patients due to obstruction in bile flow due to blockage with mucus Diabetes may also occur in patients due to abnormal functioning of endocrine cells of pancreas. The ultimate cause of death in most of the patients with cystic fibrosis is lung failure.

The symptoms in children and infants vary and at times may not even appear till adolescence or even beyond that. The children with cystic fibrosis may have persistent occurrence of diaorrhoea with bulky, greasy foul smelling stool, frequent wheezing, pneumonia ands stunted growth. Flaring of nose, poor appetite and abdominal pain are few more symptoms seen in affected children.

Barrel-chested appearance and difficult breathing can also occur in children with cystic fibrosis, the infants with cystic fibrosis can be identified with excessive secretion of mycenoium, which in turns blocks the gut and have to be operated upon to remove the blockage. Salt tasting skin, gassiness, pale stools, swelling in abdomen, vomiting and dehydrations are among the other symptoms found in babies and children suffering with cystic fibrosis.

Cystic fibrosis is an autosomal recessive gene disorder; hence there is no cure available. The current available treatment intervention aims to treat the symptoms of respiratory and digestive malfunctioning like proving supplements containing enzymes, antibiotics for respiratory infections, mucolytes for making sputum less sticky and heart or lung transplantation in extreme cases.