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Cystic fibrosis is a sever, autosomal recessive disease that affects humans. The name cystic fibrosis refers on the basis of characteristic scarring and cyst formation in the pancreas. Breathing problems results from frequent lung infections that are treated with antibiotics and other therapies. Some Other symptoms, including lung infections, low weight, and infertility in men .CF is caused by a mutation in the gene which is present on chromosome No 7.
Although primarily it is a a disease of Caucasian populations, but other races have lower frequencies of CF as in the Middle East and Asia.Still now, the underlying basis of the disease is not fully understood, but it is caused by mutations in the CFTR protein and the CF is considered an important genetic pediatric disorder, since it is mostly common and fatal in childhood and young adult with a mean survival time of 32 years in the US Roughly one in 3000 births in Caucasian populations are diagnosed with the disease.It is the most common mutation in nearly all populations that the deletion (Î") of a single phenylalanine (F) in position 508 within the first putative nucleotide binding domain. While the other mutations, result in varying degrees of symptoms.
The CF gene was determined by chromosome 7. The CF locus is located on chromosome 7 band q31, spans 250 kb, and contains a 24 axons. The CFTR cDNA was cloned and characterized by the same group from cultured epithelial cells. The length of mRNA is about 6500 not comprising a 6219 and having no coding region plus poly (A) tail and 3â‚¬â„¢ non-translated regions. In the pancreas nasal polyps, lungs, colon, sweat glands, placenta, and liver Transcripts were found .The length of Transcripts is not same in both normal humans and CF patients.
Detection of Cystic fibrosis Disease
In chloride (Cl-) ion increased concentration of sweat has been a cornerstone to the diagnosis of CF. A babyâ‚¬â„¢s sweat was analysed for an increased salt concentration and then compared to a normal babyâ‚¬â„¢s sweat.The advent of molecular tools and discovery of the gene responsible for the disease, more concise diagnostic tests can be used along with the sweat test to detect CF. The level of tripsinogen can be increased in the individuals who have a mutated copy of the CFTR gene. In rare instances in some individuals it can be detected with two normal copies of the CFTR gene.
Symptoms of Cystic fibrosis
The symptoms of CF may not always be apparent at birth. Occasionally, they are mild enough to go unnoticed. Over time the symptoms become more severe and require special treatment. The most common symptoms include:
Skin is salty in taste
Phlegm produced due to presistant cough
Lung infections caused due to bacteria
Sinusitis, bronchitis, or pneumonia founds frequently.
Shortness of breath.
Low weight and growth
Diarrhea or , foul-smelling, and greasy stool
Symptoms in newborns may include
Growth become poor
Can not gain weight normally during childhood
In first 24 to 48 hours of life no bowel moments
Salty skin in taste
Symptoms related to bowel function
Due to severe constipation belly pain
Increased gas,due to belly appears swollen
loss of appetite
Stools will be pale or clay colored, foul smell, and have mucus,
Symptoms related to the lungs and sinuses
Increased mucus in the sinuses or lungs and coughing
Nasal congestion due to nasal polyps
Fever due to CF
Problem in breathing
Symptoms that can be noticed later in life
Problems in respiration
Treatment of Cystic fibrosis
Still no known cure of cystic fibrosis is present. But quality and length of life have been improved through proper nutrition over the years, specialized medical care, and therapies aggressive drug treatments . Treatments based on the severity of the disease and it varies from person to person and the symptoms that are caused by the particular gene mutation. To suppress the development of infections people with CF are almost always taking antibiotics in order .
Much of cystic fibrosis treatment consists of methods that clear mucus from the airways. Many of the techniques use vibrations to help loosen the mucus in the lungs so it can be coughed out. There are also medications such as mucus thinners, antibiotics, anti-inflammatories, and bronchodilators that help breathing and assist in the expulsion of mucus.
Patients with CF will also take pancreatic enzyme supplements in the form of pills before meals and snacks since the disease blocks pancreatic enzymes from getting into the intestines. These help CF patients to digest food and get proper nutrition.
When lung function is especially low, physicians will recommend a double lung transplantation.
Treatment for lung problems includes
Antibiotics can be used to treat and prevent lung and sinus infections. They can be taken by mouth, or given in the veins or by inhalers. Inhaled medicines to help open the airways
Enzyme therapy can be used to thin mucus and make it easier to cough up
Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly
Oxygen therapy can be used if lung disease gets worse
Aerobic exercise may also be used to treat the lung problem or other therapies to thin the mucous and make it easier to cough up out of the lungs.
Cystic fibrosis canâ‚¬â„¢t be prevented. Screening those with a family history of the disease may detect the cystic fibrosis gene in 60 - 90% carriers which will depend on the test being used.