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'''For the WikiDoc page for this topic, click [[Cystic fibrosis|here]]'''
'''For the WikiDoc page for this topic, click [[Cystic fibrosis|here]]'''


{{CMG}}; '''Assistant Editor-in-Chief:''' Meagan E. Doherty
{{CMG}}; {{AE}} {{SHH}}


==Overview==
==Overview==
Cystic fibrosis (CF) is an [[inherited]] disease of the [[mucus]] and [[sweat glands]]. It affects mostly your [[lungs]], [[pancreas]], [[liver]], [[intestines]], [[sinuses]] and [[sex organs]]. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for [[bacteria]] to grow. This can lead to problems such as repeated [[lung infections]] and [[lung damage]].
{{Cystic fibrosis (patient information)}}
The [[CFTR (gene)|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 [[Symptom|symptoms]] of cystic fibrosis include [[Respiratory infection|pulmonary infection]], greasy [[diarrhea]], [[Abdominal pain|stomach pain]] and poor weight gain. The diagnostic tests for cystic fibrosis include [[Genetic testing|genetic analysis]] and [[Sweat test|sweat chloride test]]. The treatments for [[lung]] problems chest [[physical therapy]], [[Physical exercise|exercise]], medicines ([[Antibiotic|antibiotics]], [[Anti inflammatory medications|anti-inflammatory]], [[Bronchodilator|bronchodilators]] and [[Mucolytic agent|mucolytic]]<nowiki/>s) and [[pulmonary rehabilitation]]. The treatments of [[Digestive system|digestive]] problems include [[Nutrition|nutritional]] therapy, [[vitamin]] supplements, high salt diet and oral [[Pancreas|pancreatic]] [[enzymes]].


==What are the symptoms of Cystic fibrosis?==
==What are the Symptoms of cystic fibrosis?==
Because there are more than 1,000 mutations of the CF gene, symptoms differ from person to person.
* Skin tastes salty
* Baby does not pass stool when first born


===Symptoms in newborns===
=== Pulmonary symptoms: ===
* Delayed growth
* [[Respiratory tract infection|Pulmonary infections]] (cause frequent [[Cough|coughing]] that brings up thick [[sputum]] that is sometimes bloody)
* Failure to gain weight normally during childhood
* [[Nasal polyp|Nasal polyps]] (growths in the nose)
* No bowel movements in first 24 to 48 hours of life
* Salty-tasting skin


===Symptoms related to bowel function===
=== Digestive System: ===
* Belly pain from severe [[constipation]]
* [[Diarrhea]] or bulky, foul-smelling, [[Steatorrhea|greasy stools]] ([[mucus]] can block [[Duct (anatomy)|ducts]] in [[pancreas]] and prevents [[enzymes]] from reaching the [[Intestine|intestines]]. As a result, [[Intestine|intestines]] can not fully absorb [[Lipid|fats]] and [[Protein|proteins]].
* Increased gas, bloating, or a belly that appears swollen (distended)
* [[Stomach pains|Stomach pain]] and discomfort (because of too much gas or severe [[constipation]])
* [[Nausea]] and loss of appetite
* [[Failure to thrive|Poor weight gain]] and growth (because of the lack of [[enzymes]] to help absorb [[Fat|fats]] and [[Protein|proteins]])
* Stools that are pale or clay colored, foul smelling, have mucus or that float
* Weight loss


===Symptoms related to the lungs and sinuses===
* [[Rectal prolapse]] (frequent [[Cough|coughing]] or problems passing stools may cause [[rectal]] tissue from inside to move out of [[rectum]])
* Coughing or increased mucus in the sinuses or lungs
* [[Fatigue]]
* [[Nasal congestion]] caused by [[nasal polyps]]
* Recurrent episodes of [[pneumonia]] (Symptoms include [[Fever|fever,]] increased [[coughing]], increased [[shortness of breath]], loss of appetite, more [[sputum]], sinus pain or pressure caused by [[infection]] or [[polyps]])


==What are the causes of Cystic fibrosis?==
==What Causes cystic fibrosis?==
Cystic fibrosis CF is caused by a defective gene which causes the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the [[lungs]] and in the [[pancreas]], the organ that helps to break down and absorb food.
* The [[CFTR (gene)|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)|CFTR gene]]. The type of defect may affect the severity of cystic fibrosis.  


This collection of sticky mucus results in life-threatening [[lung infections]] and serious digestion problems. The disease may also affect the sweat glands and a man's [[reproductive system]].
==Who is at Highest Risk?==
* Every person inherits two [[CFTR (gene)|CFTR genes]], one from each parent. Children who [[Inherited|inherit]] two faulty [[CFTR (gene)|CFTR gene]] from both parents will have CF.


Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes, one from each parent. An estimated 1 in 29 Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent.
==Diagnosis==
 
=== Newborn Screening ===
* All States [[Screening (medicine)|screen]] newborns for CF using a [[Genetic testing|genetic test]] or a [[blood test]]. The [[Genetic testing|genetic test]] shows whether a newborn has faulty [[CFTR (gene)|CFTR genes]].
* The [[blood test]] shows whether a newborn's [[pancreas]] is working properly.
 
=== Sweat Test ===
* If a [[Genetic testing|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 [[Electric current|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.


Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18 or older. These patients usually have a milder form of the disease.
=== Other Tests ===
* [[Genetic testing|Genetic test]]<nowiki/>s to find out what type of [[Cystic fibrosis transmembrane conductance regulator|CFTR]] defect is causing your CF.
* A [[Chest X-ray|chest x ray]] can show whether your [[Lung|lungs]] are inflamed or scarred, or whether they trap air.
* A [[sinus]] x ray may show signs of [[Rhinosinusitis|sinusitis]], a [[Complication (medicine)|complication]] of CF.
* [[Spirometry|Lung function tests]] measure how much air you can breathe in and out, how fast you can breathe air out, and how well your [[Lung|lungs]] deliver [[oxygen]] to your [[blood]].
* A [[sputum culture]] which your doctor will take a sample of your [[sputum]] (spit) to see whether [[bacteria]] are growing in it. If you have [[bacteria]] called mucoid [[Pseudomonas]], you may have more advanced CF that needs aggressive treatment.


==Who is at highest risk?==
=== Prenatal Screening ===
People who's parents are carriers of the cystic fibrosis gene are at risk of inheriting the disease.
* If you are [[Pregnancy|pregnant]], prenatal [[Genetic testing|genetic tests]] can show whether your [[fetus]] has CF. These tests include [[amniocentesis]] and [[Chorionic villus sampling|chorionic villus sampling (CVS)]].
** In [[amniocentesis]], your doctor inserts a hollow needle through your [[abdominal wall]] into your [[uterus]] and removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's [[CFTR (gene)|CFTR genes]] are normal.
** In [[Chorionic villus sampling|CVS]], your doctor threads a thin tube through the [[vagina]] and [[cervix]] to the [[placenta]]. and removes a tissue sample from the [[placenta]] using gentle suction. The sample is tested to see whether the baby has CF.


==Diagnosis==
=== Cystic Fibrosis Carrier Testing ===
A blood test is available to help detect cystic fibrosis. The test looks for variations in a gene known to cause the disease.
* People who have one normal [[Cystic fibrosis transmembrane conductance regulator|CFTR]] [[gene]] and one faulty [[Cystic fibrosis transmembrane conductance regulator|CFTR]] [[gene]] are CF carriers. CF [[Carrier|carriers]] usually have no [[Symptom|symptoms]] of CF and live normal lives. However, [[Carrier|carriers]] can pass faulty [[CFTR (gene)|CFTR genes]] on to their children. If you have a [[family history]] of CF or a partner who has CF (or a [[family history]] of it) and you are planning a [[pregnancy]], you may want to find out whether you are a CF [[carrier]].
* A [[genetics]] counselor can [[Blood test|test a blood]] or [[saliva]] sample to find out whether you have a faulty [[CFTR (gene)|CF gene]]. This type of testing can detect faulty [[CFTR (gene)|CF genes]] in 9 out of 10 cases.
 
==Treatment Options==
Cystic fibrosis (CF) has no [[cure]]. However, treatments have greatly improved in recent years. The goals of CF treatment include:
* Preventing and controlling [[Respiratory infections|lung infections]]
* Loosening and removing thick, sticky [[mucus]] from the [[Lung|lungs]]
* Preventing or treating blockages in the [[Intestine|intestines]]
* Providing enough [[nutrition]]
* Preventing [[dehydration]] (a lack of fluid in the body)
 
=== Treatment for Lung Problems ===
* The main treatments for [[lung]] problems in people who have CF are chest [[Physical therapy and rehabilitation|physical therapy]] (CPT), [[Physical exercise|exercise]], and medicines. Your doctor also may recommend a [[pulmonary rehabilitation]] (PR) program.
 
==== 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 [[Airway|airways]] so you can cough it up. [[Physical exercise|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 [[Mineral|minerals]] in your blood.
 
==== Medicines ====
If you have CF, your doctor may prescribe [[Antibiotic|antibiotics]], [[Anti inflammatory medications|anti-inflammatory]] medicines, [[Bronchodilator|bronchodilators]], or medicines to help clear the [[mucus]]. These medicines help treat or prevent [[Respiratory infection|lung infections]], reduce [[Edema|swelling]] and open up the [[Airway|airways]], and thin [[mucus]]. If you have [[Mutation|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).
* [[Antibiotic|Antibiotics]] are the main treatment to prevent or treat [[Respiratory infections|lung infections]]. Your doctor may prescribe [[Mouth|oral]], inhaled, or [[Intravenous therapy|intravenous (IV)]] [[Antibiotic|antibiotics]]. [[Antibiotic|Oral antibiotics]] often are used to treat mild lung [[Infection|infections]]. Inhaled [[Antibiotic|antibiotics]] may be used to prevent or control [[Infection|infections]] caused by the [[bacteria]] mucoid [[Pseudomonas]]. For severe or hard-to-treat [[Infection|infections]], you may be given [[Antibiotic|antibiotics]] through an [[Intravenous therapy|IV]] tube (a tube inserted into a [[vein]]). This type of treatment may require you to stay in a hospital.
 
* [[Anti inflammatory medications|Anti-inflammatory medicines]] can help reduce [[Edema|swelling]] in your [[Airway|airways]] due to ongoing [[Infection|infections]]. These medicines may be [[Inhalation|inhaled]] or oral.


Other tests use to diagnose CF include:
* [[Bronchodilator|Bronchodilators]] help open the [[Airway|airways]] by relaxing the [[Muscle|muscles]] around them. These medicines are [[Inhalation|inhaled]]. They're often taken just before chest [[physical therapy]] to help clear [[mucus]] out of your [[Airway|airways]]. You also may take [[Bronchodilator|bronchodilators]] before inhaling other medicines into your lungs.


* [[Immunoreactive trypsinogen]] (IRT) test is a standard newborn screening test for cystic fibrosis. A high level of IRT suggests possible cystic fibrosis and requires further testing.
* 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]] [[Symptom|symptoms]].
* [[Sweat chloride test]] is the standard diagnostic test for cystic fibrosis. A high salt level in the patient's sweat is a sign of the disease.


Other tests that identify problems that can be related to cystic fibrosis include:
==== Treatments for Advanced Lung Disease ====
* [[Chest x-ray]] or [[CT scan]]
* If you have advanced [[Respiratory disease|lung disease]], you may need [[oxygen therapy]].
* Fecal fat test
* If other treatments have not worked, a [[Lung transplantation|lung transplant]] may be an option if you have severe [[Respiratory disease|lung disease]]. A [[Lung transplantation|lung transplant]] is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor.
* [[Lung function tests]]
* Measurement of pancreatic function
* [[Secretin]] stimulation test
* [[Trypsin]] and [[chymotrypsin]] in stool
* [[Upper GI]] and [[small bowel series]]


==Diseases with similar symptoms==
==== Pulmonary Rehabilitation ====
*[[Asthma (patient information)|Asthma]]
[[Pulmonary rehabilitation]] is a broad program that helps improve the well-being of people who have [[Chronic (medical)|chronic]] (ongoing) breathing problems.
*[[Chronic bronchitis (patient information)|Chronic bronchitis]]
*[[Pneumonia (patient information)|Pneumonia]]
*[[Celiac disease (patient information)|Celiac disease]]
==When to seek urgent medical care?==
Call your health care provider if an infant or child has symptoms of cystic fibrosis.


Call your health care provider if a person with cystic fibrosis develops new symptoms or if symptoms get worse, particularly severe breathing difficulty or coughing up blood.
PR does not replace medical therapy. Instead, it is used with medical therapy and may include:
* [[Physical exercise|Exercise]] training
* [[Nutrition|Nutritional]] counseling
* Education on your [[Respiratory disease|lung disease]] or condition and how to manage it
* Energy-conserving techniques
* Breathing strategies
* [[Psychology|Psychological]] counseling and/or group support


Call your health care provider if you or your child experiences:
=== Treatment for Digestive Problems ===
* [[Fever]], increased coughing, changes in [[sputum]] or blood in sputum, loss of appetite, or other signs of [[pneumonia]]
* [[Nutrition|Nutritional]] therapy can improve your strength and ability to stay active. It also can improve growth and development in children. [[Nutrition|Nutritional]] therapy also may make you strong enough to resist some [[Respiratory infections|lung infections]]. A nutritionist can help you create a [[Nutrition|nutritional]] plan that meets your needs.
* Increased weight loss
* More frequent bowel movements or stools that are foul-smelling or have more mucus
* Swollen belly or increased bloating


==Treatment options==
* Oral [[Pancreas|pancreatic]] [[enzymes]] to help you digest [[Lipid|fats]] and [[Protein|proteins]] and absorb more [[Vitamin|vitamins]]
An early diagnosis of cystic fibrosis and a comprehensive treatment plan can improve both survival and quality of life. Follow-up and monitoring are very important. If possible, patients should be cared for at cystic fibrosis specialty clinics, which can be found in many communities. When children reach adulthood, they should transfer to a cystic fibrosis specialty center for adults.
* Supplements of [[Vitamin|vitamins]] [[Vitamin A|A]], [[Vitamin D|D]], [[Vitamin E|E]], and [[Vitamin K|K]] to replace the fat-soluble [[Vitamin|vitamins]] that your [[Intestine|intestines]] can not absorb
* High-[[calorie]] shakes to provide you with extra nutrients
* A high-salt diet or salt supplements that you take before [[Physical exercise|exercising]]
* A [[feeding tube]] to give you more [[Calorie|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 [[Nutrition|nutritional]] solution to the entrance of the tube. It will feed you while you sleep.
* Sometimes surgery is needed to remove an [[Intestine|intestinal]] blockage.
* Medicines to reduce your [[Gastric acid|stomach acid]] and help oral [[Pancreas|pancreatic]] [[enzymes]] work better.


Treatment for lung problems includes:
==Where to find Medical Care for Cystic fibrosis?==
Medical care for cystic fibrosis can be found [https://www.google.com/maps/search/hospitals/ here].


* [[Antibiotics]] to prevent and treat lung and sinus infections. They may be taken by mouth, or given in the veins or by breathing treatments. People with cystic fibrosis may take antibiotics only when needed, or all the time. Doses are usually higher than normal.
==Prevention==
* Inhaled medicines to help open the airways
* There is no known way for the primary prevention of cystic fibrosis.
* [[DNAse enzyme replacement therapy]] to thin mucus and make it easier to cough up
* [[Flu vaccine]] and [[pneumococcal polysaccharide vaccine]] (PPV) yearly
* [[Lung transplant]] is an option in some cases
* [[Oxygen therapy]] may be needed as lung disease gets worse


Treatment for bowel and nutritional problems may include:
==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]] [[Complication (medicine)|complications]] are currently the primary causes of [[morbidity]] and are responsible for 80% of [[Mortality rate|mortality]].
* At present time [[Survival rate|survival]] probability of children is 40-50 years


* A special diet high in protein and calories for older children and adults
==Possible Complications==
* [[Pancreatic enzymes]] to help absorb fats and protein
* [[Vitamin supplements]], especially vitamins A, D, E, and K
* Your doctor can suggest other treatments if you have very hard stools


Care and monitoring at home should include:
=== Lung involvement: ===
* [[Respiratory infections|Pulmonary infections]]


* Avoiding smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew
* [[Rhinosinusitis|Sinusitis]] (inflammation of [[Paranasal sinus|sinuses]])
* Clearing or bringing up mucus or secretions from the airways. This must be done one to fours times each day. Patients, families, and caregivers must learn about doing chest percussion and postural drainage to help keep the airways clear
* [[Airway obstruction]]
* Drinking plenty of fluids. This is particularly true for infants, children, in hot weather, when there is diarrhea or loose stools, or during extra physical activity
* [[Hemoptysis]]
* Exercising two or three times each week. Swimming, jogging, and cycling are good options. Avoid contact sports, scuba diving, and endurance activities such as marathons
* [[Respiratory failure]]
==Where to find medical care for Cystic fibrosis?==
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|yourdisease}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Cystic fibrosis]
==Prevention of Cystic fibrosis==
There is no way to prevent cystic fibrosis. Screening those with a family history of the disease may detect the cystic fibrosis gene in 60 - 90% of carriers, depending on the test used.
==What to expect (Outlook/Prognosis)?==
Most children with cystic fibrosis are fairly healthy until they reach adolescence or adulthood. They are able to participate in most activities and should be able to attend school. Many young adults with cystic fibrosis finish college or find employment.


Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with cystic fibrosis who live to adulthood is approximately 35 years, a dramatic increase over the last three decades.
=== Gastrointestinal involvement: ===
* [[Maldigestion]] and [[malabsorption]] of [[Nutrient|nutrients]], followed by sequelae of [[malnutrition]] (permanent stunting of stature, [[Cognition|cognitive]] dysfunction and more rapid decline in pulmonary function)


Death is usually caused by lung complications.
* [[Pancreatitis]] (inflammation of [[pancreas]])
* [[Gastroesophageal reflux disease]]
* [[Constipation]]/ obstipation
* [[Gallstone disease|Cholelithiasis]] ([[Gallstone disease|gallstone]])
* [[Malabsorption]]


==Possible complications==
=== Reproductive system involvement: ===
The most common complication is chronic respiratory infection.
* In cystic fibrosis 98% of men are [[Infertility|infertile]].


* Bowel problems, such as [[Gallstone disease (patient information)|gallstones]], [[intestinal obstruction]], and [[Rectal prolapse (patient information)|rectal prolapse]]
=== Endocrine system: ===
* [[Coughing up blood]]
* [[Diabetes mellitus]]
* [[Chronic respiratory failure]]
* [[Osteoporosis]]
* [[Diabetes]]
* Delayed [[sexual development]]
* [[Infertility]]
* [[Liver disease]] or [[liver failure]], [[Pancreatitis (patient information)|pancreatitis]], [[biliary cirrhosis]]
* [[Malnutrition]]
* [[Nasal polyps]] and [[Sinusitis (patient information)|sinusitis]]
* [[Osteoporosis (patient information)|Osteoporosis]] and [[arthritis]]
* [[Pneumonia (patient information)|Pneumonia]], recurrent
* [[Pneumothorax (patient information)|Pneumothorax]]
* Right-sided [[heart failure]] ([[cor pulmonale]])


==Sources==
==Sources==
http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html


http://www.nlm.nih.gov/medlineplus/ency/article/000107.htm
https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0063023/


https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis
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Latest revision as of 19:00, 17 April 2018

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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