What is cystic fibrosis?Symptoms,Causes,Medicine


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A person inherits traits or characteristics from his parents. Likewise some diseases are also passed from the parents to their offspring. Such diseases are known as hereditary diseases. These diseases are transmitted from the parents to their children  through genes. Few examples of hereditary diseases are sickle cell anemia, Huntington's disease, cystic fibrosis, hemophilia. In this blog, let's know about cystic fibrosis.  


What is cystic fibrosis? 


Cystic fibrosis also known as Mucoviscidosis is an inherited disorder which causes damage to lungs, digestive system and other organs of the body. This genetic disease affects the cells which produce mucus, sweat and digestive juices, making them thick and sticky. These further plugs the ducts and passageways.

>Symptoms of cystic fibrosis 

Symptoms of the disease may vary in different people. 

Some of the symptoms that people may experience include:- 

  • Cough accompanied with phlegm or blood. 

  • Lung infections occurring repeatedly. 

  • Fatty or bulky stools 

  • Diarrhoea or it may cause severe constipation 

  • Shortness of breath 

  • Sinusitis  

  • Wheezing 

  • Fatigue



Cystic fibrosis may lead to complications like:- 

  • Diabetes 

  • Chronic respiratory infections 

  • Liver diseases 

  • Malnutrition 

  • Sinusitis 

  • Infertility 


Cystic fibrosis is a hereditary disease and is transmitted through the genes. It is caused due to mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). Mutation is the change in the sequence of the nucleotides in DNA.  Mutation involving the deletion of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein is the most common type. The function of CFTR gene is to control the flow of salt and fluids in and out of the cells.


Diagnosis of cystic fibrosis can be done by clinical evaluation and tests like  sweat test and genetic or carrier tests . 

The sweat test involves the measurement of amount of chloride found in the sweat and the genetic test checks for the chromosomal mutations. 



There is no complete cure for cystic fibrosis but treatment can help in improving the quality of life and for reducing the complications. Treatment includes removing mucus from the lungs , preventing lung infections and preventing blocking of intestine. 



Medications for treating the symptoms of cystic fibrosis include:-  

  • Antibiotics- These can help in treating the lung infections. 

  • Drugs which helps in thinning the mucus can improve the lung functions 

  • Anti inflammatory drugs- These drugs can help in reducing swelling of airways. 

  • Bronchodilators can be given to dilate the airways. 

  • Drugs which can soften the faeces can be given to prevent constipation or bowel obstruction. 

  • Cystic fibrosis transmembrane conductance regulator (CTFR) modulators are newer medications which help in improving the function of the faulty CFTR protein. They may improve lung function and weight, and reduce the amount of salt in sweat. 


Some techniques which can help in cystic fibrosis:- 

1)Airway clearance techniques —This technique is also called chest physical therapy (CPT) .It helps in can relieve mucus obstruction and help to reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up. 

2-Vigorous exercise may also be used to clear mucus. 


3-Some breathing and coughing techniques can also be used to help in loosening the mucus. 


4-Mechanical devices like vibrating vest can be helpful to loosen lung mucus. It includes a tube in which the person has to blow into and a machine that pulses air into the lungs. 

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