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Vimukthi Chandula

Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.

Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with Cystic Fibrosis, a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.




Causes and Risk Factors

  • Cystic Fibrosis is an autosomal recessive disease caused by defects in the CFTR gene. This defective gene causes the body to produce an abnormally thick and sticky fluid in the respiratory and GI tracts, the pancreas and in the sweat glands.

  • In order to develop CF, two CF genes must be inherited, one from the mother and the other from the father. If only one CF gene is inherited, then the person is called a carrier and will have no symptoms.

  • Because cystic fibrosis is an inherited disorder, it runs in families. So family history is a risk factor.

Complications


Complications of cystic fibrosis can affect the respiratory, digestive and reproductive systems, as well as other organs.


Respiratory system complications.


  • Damaged airways (bronchiectasis)

  • a chronic lung condition with abnormal widening and scarring of the airways (bronchial tubes). This makes it harder to move air in and out of the lungs and clear mucus from the bronchial tubes.

  • Pneumothorax

  • air leaks into the space that separates the lungs from the chest wall, and part or all of a lung collapses. This is more common in adults with cystic fibrosis. Pneumothorax can cause sudden chest pain and breathlessness.

  • Respiratory failure

  • Over time, cystic fibrosis can damage lung tissue so badly that it no longer works. Lung function usually worsens gradually, and it eventually can become life-threatening. Respiratory failure is the most common cause of death.

  • Chronic infections

  • Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi.

Digestive system complications


  • ️ Nutritional deficiencies

  • Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body can't absorb protein, fats or fat-soluble vitamins, so you can't get enough nutrients. This can result in delayed growth, weight loss or inflammation of the pancreas.

  • ️ Intestinal obstruction. can happen to people with cystic fibrosis at all ages

  • ️ Distal intestinal obstruction syndrome.

  • partial or complete obstruction where the small intestine meets the large intestine. DIOS requires urgent treatment.


Reproductive system complications


  • Infertility in men. the tube that connects the testes and prostate gland (vas deferens) is either blocked with mucus or missing entirely.

  • educed fertility in women.


Other complications


  • ️ Thinning of the bones (osteoporosis).

  • ️ Electrolyte imbalances and dehydration.


Because people with cystic fibrosis have saltier sweat, the balance of minerals in their blood may be upset. This makes them prone to dehydration, especially with exercise or in hot weather.


Symptoms


The symptoms of cystic fibrosis can vary depending on the person and the severity of the condition.


  • strong salty taste in the skin. Parents of children with cystic fibrosis have mentioned tasting this saltiness when kissing their children.

  • A persistent cough that produces thick mucus (sputum)

  • Wheezing

  • Exercise intolerance

  • Repeated lung infections

  • Poor weight gain and growth

  • Intestinal blockage, particularly in newborns (meconium ileus)

  • Chronic or severe constipation, which may include frequent straining while trying to pass stool, eventually causing part of the rectum to protrude outside the anus (rectal prolapse)


It’s critical to get treatment for cystic fibrosis right away. Early diagnosis and treatment are critical for improving quality of life and lengthening the expected lifespan.


Physiotherapy Management


  • The main aim of physiotherapy is to prevent secondary complications and improve quality of life by removing excessive mucus secretions, maintain or improve lung function and assist with musculoskeletal therapy where needed.


  • A person suffering from CF will require intensive chest physiotherapy.

Regular assessment and monitoring is necessary during physiotherapy treatment as the patient may require supplemental oxygen, especially in advanced cystic fibrosis.

Growing Up with Cystic Fibrosis

Childhood

School can be a huge source of anxiety and depression build up among children living with cystic fibrosis. Positively, children with cystic fibrosis often find supportive friends who help with care.

Teenage Years


The most serious psychological problems of cystic fibrosis occur in adolescence when the rebellious behaviour shown by most teenagers may pose a threat to the health of someone with cystic fibrosis. Teenagers may need sympathetic treatment and counselling to help them deal with some of these issues.

Refereances:

https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700

https://www.healthline.com/health/cystic-fibrosis

https://www.physio-pedia.com/Cystic_Fibrosis


Chamika harshani




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