Abnormalities in genes of a person are called Genetic diseases. These abnormalities come from the genes of parents of effected child. They are present from birth of a child. Genetic disorders are rare. Cystic fibrosis is a recessive genetic disorder.
Cystic Fibrosis has two main characteristics fibrosis means scarring and cyst development in pancreas. It affects the liver, intestine, pancreas and mostly the lungs due to infection in lungs the person feel difficulty in breathing on the other hand abnormality in pancreas stops the natural enzymes which absorb the food. It also affects on the glands whose produce mucus and sweat. Mucus build up also encourage the growth of bacteria. They lose large amount of salt which made unhealthy imbalance of minerals in the blood. It is due to abnormal transfer of sodium and chloride crossway an epithelium. First time it diagnosis in 1930s.in the early days the death rate was high only some person lived until elementary school. With passage of time the life of patient extended till 30s and 40s with help of medical treatment.
Symptoms of Cystic Fibrosis:
The symptoms of cystic fibrosis usually appear in the first year of life and with passage of time they become severe and need treatment. These are:
Skin taste salty
Constant coughing some time also with phlegm
Poor growth in presence of good appetite
Difficulty in bowel movement.
Frequent cases of pneumonia
Long term diarrhea
Diagnosis of Cystic Fibrosis:
The diagnosis of cystic Fibrosis can be done by
Genetic test before birth for CFTR gene which is responsible for cystic fibrosis
Screening of newborns
Blood test of baby for functioning of pancreas
Test the level of salt in baby's sweat. Half level of salt show cystic fibrosis
Test the functioning of lung
Check the bacterial growth in the lung
An immunoreactive trypsinogen test (IRT) for newborns
Chest X ray which show the functioning of lungs and also for the infections.
Causes of cystic fibrosis:
As it is a genetic disease so the genes of both parents may carrier of the gene. I present in boys and girl equally.
Prevalence of cystic fibrosis:
Approximately 1000 new case diagnosis each year.
Greater than 70% of cystic fibrosis patients diagnose in the age of two. Only Greater than 45% patient diagnose at the age of 18 or older
There are 30,000 in the United States and 70,000 worldwide patients of cystic fibrosis.
Treatment of cystic fibrosis:
First of all there is no treatment for cure of cystic fibrosis; with the help of treatment the life of patient can be better by control of symptoms like lung infection etc. due to these treatment the patients of cystic fibrosis can survive up to age of 30s and 40s now a days. Researchers try to find the new treatment for the cure of the Cystic Fibrosis and also for their better health and long life.
For the treatment of lungs infection chest physiotherapy done to remove mucus, inhaled medications, use anti biotic and anti-inflammatories medicine. If the lung problem increases then oxygen therapy can use, and also considered lung transplant.
For digestion problem of the patient pancreatic enzymes taken with meal to digest food, use supplements of vitamins A, D, E, and K, provide extra calories and nutrition through feeding tubes, use well balanced and high protein diet.
For the breathing problem chest physiotherapy use for twice a day which help the patient in breath. New mechanical treatments which involve electronically vibrating vests are used now a day's bur it is very expensive.
Regular exercise help in lung and hearth fitness for Cystic Fibrosis
Use gene therapy for Cystic Fibrosis
Some time transplant of lung for Cystic Fibrosis carries the risk to suppress the immune system.
The Cystic Fibrosis Foundation:
Cystic Fibrosis Foundation work from the 1955 for the cure and better life of Cystic Fibrosis. They focus on the development of the new drugs which is used for fight with disease, and to improve the quality of life.
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