CYSTIC FIBROSIS, Causes, Signs and Symptoms, Diagnosis and Treatment.

Summary

Cystic fibrosis is a genetic disorder that severely affects the digestive and respiratory systems, leading to thick mucus buildup that can cause lung infections, malnutrition, and infertility. It is caused by a defect in the CFTR gene and most commonly affects white people of Northern European descent. Symptoms include wheezing, cough, poor weight gain, and digestive issues. While there is no cure, early diagnosis and treatments such as medications, physical therapy, and nutrition management can significantly improve life expectancy. Regular screenings and genetic tests can help detect cystic fibrosis early, improving outcomes.

Takeaways

• 😀 Cystic fibrosis is a serious genetic disorder that causes severe damage to the digestive, respiratory, and other organs in the body.
• 😀 The disorder is characterized by abnormal secretions of thick, sticky mucus that block airways, leading to respiratory issues and lung infections.
• 😀 In people with cystic fibrosis, mucus blocks pancreatic tubes, hindering digestion and causing malnutrition and vitamin deficiencies.
• 😀 Cystic fibrosis can cause excessive salt loss through sweat, leading to dehydration, low blood pressure, and potentially fatal complications.
• 😀 The disorder affects mainly the lungs, pancreas, liver, intestines, kidneys, and sex organs, and can cause infertility in both men and women.
• 😀 People with cystic fibrosis can lead normal lives with daily care, but the condition requires ongoing management and monitoring.
• 😀 Cystic fibrosis is most common among white individuals of Northern European ancestry, with around 1,000 new cases diagnosed annually.
• 😀 The condition is caused by mutations in the CFTR gene, which regulates the movement of water and salt in the body.
• 😀 Symptoms vary by severity but may include respiratory issues like wheezing and a persistent cough, and digestive symptoms like poor weight gain and greasy stools.
• 😀 Newborns are routinely screened for cystic fibrosis through blood tests and genetic testing, while older children and adults may undergo genetic or sweat tests for confirmation.
• 😀 There is no cure for cystic fibrosis, but treatment focuses on managing symptoms, preventing infections, and improving quality of life through medications and physical therapy.

Q & A

What is cystic fibrosis?

Cystic fibrosis is a serious genetic disorder that affects the digestive and respiratory systems, as well as other organs, leading to a buildup of thick, sticky mucus in the body.

How does cystic fibrosis impact the body?

In cystic fibrosis, the body produces thick and sticky mucus, which can block airways in the lungs, hinder digestive enzymes in the pancreas, and affect other organs like the liver, intestines, and kidneys.

What causes cystic fibrosis?

Cystic fibrosis is caused by a defect in the CFTR gene, located on chromosome 7. This gene regulates the movement of water and salt in and out of the cells. A child must inherit two faulty CFTR genes, one from each parent, to develop the disorder.

What are common symptoms of cystic fibrosis?

Symptoms can vary but often include respiratory issues such as wheezing and a persistent cough, digestive problems like constipation and poor weight gain, and salty sweat due to a mineral imbalance.

How does cystic fibrosis affect the lungs?

The thick mucus in cystic fibrosis can clog airways in the lungs, promoting bacterial growth and leading to chronic lung infections. Over time, these infections can cause significant lung damage.

What digestive issues are caused by cystic fibrosis?

Cystic fibrosis can block the tubes in the pancreas, preventing digestive enzymes from reaching the small intestine. This leads to malnutrition, poor absorption of nutrients, and potential intestinal blockages, especially in newborns.

How is cystic fibrosis diagnosed?

Cystic fibrosis is typically diagnosed through newborn screening, genetic testing, or a blood test for elevated levels of immunoreactive trypsinogen (IRT). A sweat test is also used to confirm the diagnosis by measuring high salt levels in sweat.

Can cystic fibrosis affect fertility?

Yes, cystic fibrosis can cause infertility in both men and women, due to its impact on the reproductive organs.

What treatments are available for cystic fibrosis?

Although there is no cure, treatments for cystic fibrosis aim to control symptoms, prevent infections, loosen mucus, and provide proper nutrition. These include medications, chest physical therapy, surgeries, and pulmonary rehabilitation.

Is cystic fibrosis more common in certain populations?

Yes, cystic fibrosis is most common among people of Northern European descent and less common among African and Asian populations.