Cystic fibrosis (patient information)

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Cystic fibrosis

Overview

What are the symptoms?

What are the causes?

Who is at highest risk?

Diagnosis

When to seek urgent medical care?

Treatment options

Where to find medical care for Cystic fibrosis?

Prevention

What to expect (Outlook/Prognosis)?

Possible complications

Cystic fibrosis On the Web

Ongoing Trials at Clinical Trials.gov

Images of Cystic fibrosis

Videos on Cystic fibrosis

FDA on Cystic fibrosis

CDC on Cystic fibrosis

Cystic fibrosisin the news

Blogs on Cystic fibrosis

Directions to Hospitals Treating Cystic fibrosis

Risk calculators and risk factors for Cystic fibrosis

For the WikiDoc page for this topic, click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]

Overview

Cystic fibrosis

Overview

What are the symptoms?

What are the causes?

Who is at highest risk?

Diagnosis

When to seek urgent medical care?

Treatment options

Where to find medical care for Cystic fibrosis?

Prevention

What to expect (Outlook/Prognosis)?

Possible complications

Cystic fibrosis On the Web

Ongoing Trials at Clinical Trials.gov

Images of Cystic fibrosis

Videos on Cystic fibrosis

FDA on Cystic fibrosis

CDC on Cystic fibrosis

Cystic fibrosisin the news

Blogs on Cystic fibrosis

Directions to Hospitals Treating Cystic fibrosis

Risk calculators and risk factors for Cystic fibrosis

The CFTR gene makes a protein that controls the movement of salt and water in and out of the cells. In people who have cystic fibrosis, the gene makes a protein that does not work well. This causes thick, sticky mucus and very salty sweat. The other symptoms of cystic fibrosis include pulmonary infection, greasy diarrhea, stomach pain and poor weight gain. The diagnostic tests for cystic fibrosis include genetic analysis and sweat chloride test. The treatments for lung problems chest physical therapy, exercise, medicines (antibiotics, anti-inflammatory, bronchodilators and mucolytics) and pulmonary rehabilitation. The treatments of digestive problems include nutritional therapy, vitamin supplements, high salt diet and oral pancreatic enzymes.

What are the Symptoms of cystic fibrosis?

  • Skin tastes salty
  • Baby does not pass stool when first born

Pulmonary symptoms:

Digestive System:

What Causes cystic fibrosis?

  • The CFTR gene makes a protein that controls the movement of salt and water in and out of the cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
  • More than a thousand defects are known that can affect the CFTR gene. The type of defect may affect the severity of cystic fibrosis.

Who is at Highest Risk?

Diagnosis

Newborn Screening

Sweat Test

  • If a genetic test or blood test suggests CF, a doctor will confirm the diagnosis using a sweat test. This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat. For this test, the doctor triggers sweating on a small patch of skin on an arm or leg, rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling. Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of CF.

Other Tests

Prenatal Screening

Cystic Fibrosis Carrier Testing

Treatment Options

Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:

Treatment for Lung Problems

Chest Physical Therapy

Chest physical therapy also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up. You might sit down or lie on your stomach with your head down while you do chest physical therapy. Gravity and force help drain the mucus from your lungs.

Exercise

Aerobic exercise that makes you breathe harder can help loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.

However, CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. Thus, your doctor may recommend a high-salt diet or salt supplements to maintain the balance of minerals in your blood.

Medicines

If you have CF, your doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or medicines to help clear the mucus. These medicines help treat or prevent lung infections, reduce swelling and open up the airways, and thin mucus. If you have mutations in a gene called G551D, which occurs in about 5 percent of people who have CF, your doctor may prescribe the oral medicine Ivacaftor (approved for people with CF who are 6 years of age and older).

  • Your doctor may prescribe medicines to reduce the stickiness of your mucus and loosen it up. These medicines can help clear out mucus, improve lung function, and prevent worsening lung symptoms.

Treatments for Advanced Lung Disease

Pulmonary Rehabilitation

Pulmonary rehabilitation is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.

PR does not replace medical therapy. Instead, it is used with medical therapy and may include:

Treatment for Digestive Problems

  • Nutritional therapy can improve your strength and ability to stay active. It also can improve growth and development in children. Nutritional therapy also may make you strong enough to resist some lung infections. A nutritionist can help you create a nutritional plan that meets your needs.
  • Oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins
  • Supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that your intestines can not absorb
  • High-calorie shakes to provide you with extra nutrients
  • A high-salt diet or salt supplements that you take before exercising
  • A feeding tube to give you more calories at night while you are sleeping. The tube may be threaded through your nose and throat and into your stomach. Or, the tube may be placed directly into your stomach through a surgically made hole. Before you go to bed each night, you will attach a bag with a nutritional solution to the entrance of the tube. It will feed you while you sleep.
  • Sometimes surgery is needed to remove an intestinal blockage.
  • Medicines to reduce your stomach acid and help oral pancreatic enzymes work better.

Where to find Medical Care for Cystic fibrosis?

Medical care for cystic fibrosis can be found here.

Prevention

  • There is no known way for the primary prevention of cystic fibrosis.

What to Expect (Outlook/Prognosis)?

  • Life expectancy of patients with cystic fibrosis has been increased over past decades because of better symptomatic treatment strategies.
  • In patients with cystic fibrosis, lung complications are currently the primary causes of morbidity and are responsible for 80% of mortality.
  • At present time survival probability of children is 40-50 years

Possible Complications

Lung involvement:

Gastrointestinal involvement:

Reproductive system involvement:

Endocrine system:

Sources

https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0063023/


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