Cystic fibrosis

Other names: Fibrosis, cystic

DEFINITION

Cystic fibrosis is a life-threatening disorder that causes severe damage to the lungs and digestive system. An inherited condition, Cystic fibrosis affects the cells that produce mucus, sweat, and digestive juices. These secreted fluids are normally thin and slippery. But in Cystic fibrosis, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts, and passageways, especially in the lungs and pancreas. Cystic fibrosis is most common in white people of Northern European ancestry, but also occurs in Hispanics, African-Americans, and some Native Americans. It is rare in people of Asian and Middle Eastern origin. Although Cystic fibrosis requires daily care, most people with the condition are able to attend school and work and have a better quality of life than in previous decades.

SYMPTOMS

Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. People with Cystic fibrosis tend to have higher than normal levels of salt in their sweat. Most of the other signs and symptoms affect the respiratory system or the digestive system.

Respiratory signs and symptoms:

• Persistent cough producing thick spit
• Wheezing
• Breathlessness
• Decreased ability to exercise
• Repeated lung infections
• Inflamed nasal passages or stuffy nose

Digestive signs and symptoms:

• Foul-smelling, greasy stools
• Poor weight gain and growth
• Intestinal blockage
• Severe constipation

When to see a doctor: Talk to your doctor if your child isn't growing properly, has a persistent cough producing mucus, has repeated lung or sinus infections, has frequent fatty bad-smelling stools, or has rectal prolapse.

CAUSES

In Cystic fibrosis, a defect (mutation) in a gene changes a protein that regulates the movement of salt in and out of cells. The affected gene is inherited from parents as a recessive gene. Children need to inherit one copy of the gene from each parent to have the disease.

RISK FACTORS

• Family history: Cystic fibrosis runs in families.
• Race: Most common in white people of Northern European ancestry.

COMPLICATIONS

The sticky mucus associated with Cystic fibrosis causes complications in the respiratory, digestive, and reproductive systems.

Respiratory system complications: Bronchiectasis, chronic infections, nasal polyps, coughing up blood, pneumothorax, collapsed lung, respiratory failure.

Digestive system complications: Nutritional deficiencies, diabetes, blocked bile ducts, rectal prolapse.

Reproductive system complications: Infertility in men; possible fertility issues in women.

Other complications: Osteoporosis; electrolyte imbalances.

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QUESTIONS

1. What is cystic fibrosis?

Cystic fibrosis is a life-threatening disorder affecting the lungs and digestive system due to a defective gene causing thick mucus production.

2. What are common symptoms of cystic fibrosis?

Symptoms include persistent cough with thick mucus production, wheezing, breathlessness, poor weight gain due to nutrient malabsorption.

3. How is cystic fibrosis diagnosed?

Diagnosis involves newborn screening for high levels of certain chemicals followed by sweat tests and genetic testing.

4. What are some respiratory complications of cystic fibrosis?

Complications include bronchiectasis, chronic infections leading to pneumonia or bronchitis.

5. How does cystic fibrosis affect digestion?

Thick mucus can block digestive enzymes leading to malabsorption issues like foul-smelling stools and poor weight gain.

6. What are some possible reproductive system complications of cystic fibrosis?

Men may experience infertility due to blocked vas deferens; women may face fertility challenges during pregnancy.

7. What lifestyle changes can help manage cystic fibrosis?

Regular exercise programs like pulmonary rehabilitation can improve lung function; nutritional counseling plays a vital role.

8. Are there surgical treatments for cystic fibrosis?

Yes, surgeries like nasal polyp removal or lung transplantation may be options for severe cases.

9. What is involved in chest physical therapy for cystic fibrosis patients?

Techniques like clapping on the chest help loosen mucus for easier clearance from the lungs.

10. How can genetic testing help families at risk for cystic fibrosis?

Genetic testing can identify carriers of the gene mutation which aids family planning decisions and early intervention strategies.

By providing accurate information on cystic fibrosis symptoms, causes, diagnosis methods, treatments available including lifestyle recommendations & coping strategies; this article aims to educate readers on this complex genetic disorder affecting multiple organ systems.