Cystic Fibrosis Symptoms

Cystic Fibrosis Symptoms are unique manifestations that a person exhibit due to an inherited disorder.


Cystic Fibrosis Symptoms is the most prevalent, life-threatening genetic recessive disease among Caucasians. In order to have the disease, a person should inherit a defective copy of the gene called CF gene from one of each parent. It is inherited with a prevalence ratio of 1:30 and Americans can unknowingly posses the recessive gene in their body.

This systemic autosomal disorder is usually confirmed or diagnosed during infancy or on the early stage of the person’s childhood but it may be discovered later in life in some people.  Respiratory manifestations often occur when the patient is diagnosed on the latter part of life.

What is Cystic Fibrosis?

The evolution of the CF transmembrane regulator conductance protein can cause the occurrence of Cystic Fibrosis. Cystic Fibrosis transmembranes are chloride channels found in most of exocrine tissues. Chloride is a substance that transports problem that may lead to viscous and thick secretions in the pancreas, lungs, liver, reproductive tract and intestine. It can also increase the salt content within the sweat gland secretions.

The Cystic Fibrosis genes were discovered during the year of 1989. There were various discoveries about it and the progression of the disorder was identified. A routine screening for Cystic Fibrosis gene mutations and the diagnosis of carrier persons of the disease will increase the survival percentage of the patient and to decrease the progression of the disease. The chance of an offspring to inherit the Cystic Fibrosis gene is heightened if both parents have the recessive gene. It will give each offspring a 25% chance of having the disease.

Genetic assessments should be an option for couples who have positive familial tendencies of Cystic Fibrosis and to the partners of CF patients who are assuming to build a family. However, as of today, it is not recommended for the general public to undergo genetic testing.

What are the Cystic Fibrosis Symptoms?

Cystic Fibrosis Symptoms have a systemic effect to the body. This is because of the fact that it affects more than one system of the body. Thus, the common symptoms arise in the pulmonary system first. The respiratory symptoms of Cystic Fibrosis involves wheezing, productive cough, hyper expansion of the lungs during Chest X-ray and consistent results of pulmonary function tests with obstructive disorders of the airway.

Infection and long term respiratory inflammation can occur due to an ineffective mucus clearance. Pathogenic microorganism colonization of the airways can occur in the early stage of the disorder. Haemophilus Influenza and Staphylococcus Aureus are the typical pathogens that may invade the upper respiratory tract during the early stage of childhood. Symptoms can as well include nasal polyps and sinusitis.

Non-respiratory clinical symptoms include gastrointestinal disorders such as recurrent abdominal pain, pancreatic insufficiency and vitamin deficiencies due to biliary tract obstruction, biliary cirrhosis weight loss and recurrent pancreatitis (See: Pancreatic cancer symptoms). Moreover, several symptoms can occur as well like diabetes related to CF, clubbing of fingers due to prolonged tissue hypoxia and genito-urinary problems.

How is Cystic Fibrosis Diagnosed?

The diagnosis of this condition can be achieved by performing the sweat chloride test. A positive indication of this test is an elevated concentration of chloride in sweat along with the manifestation of the several symptoms mentioned above. Repeated results of more than 60mEq/L on a number of sweat chloride tests will differentiate Cystic Fibrosis from other obstructive airway diseases. The only recognized form of sweat chloride test is the Quantitative Pilocarpine Iontophoresis Sweat test.

What are the Treatments for Cystic Fibrosis Symptoms?

Cystic Fibrosis has no definite treatment. The managements available for this type of patients are only for the relief of the symptoms that they may experience and to delay the progress of the disease. The length and quality of patient’s existence have significantly improved as years pass through by utilizing specialized medical care, proper nutrition and belligerent therapies and drug treatments. Treatments may differ from one person to another based on the degree of severity of the symptoms and disease that are attributable to a particular mutation of the genes. Patients with this disease can have a high susceptibility of having infections. Most of the time they are prescribed to take antibiotics as a prophylactic treatment and when the result of the sputum sensitivity and culture is positive for the presence of pathogens.

Cystic Fibrosis Symptoms can be managed by various therapies and medications. Many of the treatments for Cystic Fibrosis comprise of ways to clear mucus secretions from the airways. Often, the methods utilize vibrations and postural drainage to loosen mucus secretions in the lungs and airways so that it can be expectorated out by the patient with lesser effort.  Medications like anti-inflammatory, mucus thinners and bronchodilators assist the patient to breathe and facilitate mucus excretion. Other management options are also provided like anti-cholinergic, supplemental oxygen, lung transplantation and even gene therapy.

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