Cystic Fibrosis The Disease Biology Essay


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.

Gene involved


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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 3€™ 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 baby€™s sweat was analysed for an increased salt concentration and then compared to a normal baby€™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.

nasal polyps

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

feels Fatigue

Nasal congestion due to nasal polyps

Fever due to CF


Problem in breathing

No appetite

More sputum

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 . 

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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

hypertonic saline

Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly

Lung transplantation 

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 can€™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.