Cystic+Fibrosis

**Cystic Fibrosis (CF)**

**What is cystic fibrosis?**

Cystic fibrosis is an inherited disease that affects the and the digestive system (mainly pancreas) with mucus. When having this disease it is harder for you to breathe and digest food. Normally the mucus is a watery substance that prevents the organs from dying, but when you have cystic fibrosis the mucus becomes thick and sticky. The mucus builds in the lungs and it blocks your airways. Due to the mucus in your lungs that can lead to bacteria grow and it may a lung infection. In the pancreas the mucus starts blocking tubes or ducts. Most children with CF are diagnosed by age 2. However, a small number are not diagnosed until age 18 or older, these patients usually have a milder form of the disease.



Figure A shows the organs that cystic fibrosis can affect. Figure B shows a cross-section of a normal airway. Figure C shows an airway with cystic fibrosis. The airway is blocked by thick, sticky mucus that contains blood and bacteria.



**Causes (gene or chromosomal mutation)**

Cystic fibrosis is caused by a defective gene, which in case causes the body to produce fluid called mucus. People who have cystic fibrosis, there genes make a protein that controls the movement of salt and water in and out of your body cells that doesn’t work well. The CFTR (Cystic fibrosis transmembrane conductance regulator) gene can also be affected by more than a thousand known defects. From each parent you inherit on one CFTR gene. So that means that children who inherit one defected CFTR are on risk of having cystic fibrosis. Below there's an example of an inheritance pattern for cystic fibrosis:

 

**Symptoms**

Symptoms in newborns may include:

• Delayed growth • Failure to gain weight on a normal rate • No bowel movement in first 24 to 48 hours of life • Salty-tasting skin

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Symptoms related to bowel function may include:

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Belly pain from severe constipation <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Increased gas, bloating, or a belly that appears swollen <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Nausea <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Loss of appetite <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Stools that are pale or clay colored, foul smelling, have mucus, or that float <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Weight loss

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Symptoms related to the lungs and sinuses may include:

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Coughing or increased mucus <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Fatigue <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Nasal congestion <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Recurrent episodes of pneumonia <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Increased shortness of breath

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Symptoms that may be noticed later in life:

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Infertility (in men) <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Repeated inflammation of the pancreas <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Respiratory symptoms <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Fever

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Clubbed fingers is a symptom of this disease, often of the heart or lungs which cause chronically low blood levels of oxygen. Diseases which cause malabsorption, such as cystic fibrosis or celiac disease can also cause clubbing.



<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">**Treatment**

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Treatment for lung problems includes:

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• 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. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Inhaled medicines to help open the airways <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Enzyme therapy to thin mucus and make it easier to cough up <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• High concentration of salt solutions (hypertonic saline) <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Lung transplant <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Oxygen therapy may be needed as lung disease gets worse

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Treatment for bowel and nutritional problems may include:

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• A special diet high in protein and calories for older children and adults <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Pancreatic enzymes to help absorb fats and protein <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Vitamin supplements, especially vitamins A, D, E, and K

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Care that you can take at home may include:

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Avoiding smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Exercising two or three times each week. Swimming, jogging, and cycling are good options <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Drinking plenty of fluids. Especially for kids or when there is diarrhea, loose stools or during physical activities <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Clearing or bringing up mucus or secretions from the airways. This must be done one to fours times each day <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Patients, families, or caregivers must learn about doing chest percussion and postural drainage to help keep the airways clear. Like this:



<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">**Benefits**

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Some benefits for having cystic fibrosis are:

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• That they are intitled for a Disability Living Allowance.

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">**Limitations**

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Some limitations of having cystic fibrosis are that:

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• It causes your sweat to become very salty. That means that when eat sweet foods, you lose a large amount of salts. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• You’re on a higher risk of having diabetes or osteoporosis. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• In men it can cause them infertility, which means there unable to have children. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Death may occur caused by lung complications.


 * <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Social effects **


 * <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Economical effects **

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">**People diagnose with Cystic Fibrosis**

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Frankie Abernathy (December 21, 1981 – June 9, 2007). <span style="font-family: Arial,Helvetica,sans-serif; font-size: 16px; line-height: 23px;">She was diagnosed at the age of 3. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">Frankie appeared on MTV's //The Real World: San Diego//. She showed many symptoms of the genetic disease, such as difficulty breathing and immune-system impairment. Because of her MTV raise a national awareness for cystic fibrosis. A scholarship was set up in her name at her alma mater, Blue Springs High School.

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Nathan Charles (9 January 1989). He was

<span style="font-family: Arial,Helvetica,sans-serif;">• Alex Stobbs (3o January 1990). He was a british musician and the subject of the documentary //<span style="font-family: Arial,Helvetica,sans-serif;">A boy called Alex //<span style="font-family: Arial,Helvetica,sans-serif;">. His first documentary talk about Alex's determined and passionate attempt to conduct Bach's Magnificat while suffering from cystic fribrosis. The second documentary title //<span style="font-family: Arial,Helvetica,sans-serif;">Alex: A pasion for life //it showed Stobb's first year at King's College, Cambridge as he prepared to conduct Bach's Matthew Passion with a full orchestra, while stil struggleling with cystic fibrosis.

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">•

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">**Statistics**

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Cystic Fibrosis affects over 9,000 people in the UK. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Over 95% of the UK CF population is Caucasian, but CF affects many ethnic groups. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Over two million people in the UK carry the faulty gene that causes Cystic Fibrosis - around 1 in 25 of the population. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• If two carriers have a child, the baby has a 1 in 4 chance of having Cystic Fibrosis. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Each week, five babies are born with Cystic Fibrosis. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Each week, two young lives are lost to Cystic Fibrosis. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• Currently half of the CF population will live past 41 years of age, and improvements in treatments mean a baby born today is expected to live even longer. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• The average life span for people with CF who live to adulthood is approximately 37 years.

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">**Work Cited**

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• http://www.cftrust.org.uk/aboutcf/whatiscf/ <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• http://www.cftrust.org.uk/aboutcf/faqs <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">• <span style="font-family: Arial,Helvetica,sans-serif; font-size: 120%;">•