Cystic Fibrosis

What Is Cystic Fibrosis? o Cystic fibrosis (CF) is a life-threatening genetic disease that primarily affects the lungs and digestive system.

o Cystic fibrosis mostly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

oThe thick, sticky mucus also can block tubes, or ducts, in the pancreas. As a result, the digestive enzymes from the pancreas can't reach the small intestine, causing impaired absorption of fats and proteins. This can cause vitamin deficiency and malnutrition.

Symptoms of CF

People with CF can have a variety of symptoms, including: Very salty-tasting skin, salty tasting

sweat Persistent coughing with productive

thick mucous Frequent chest infections, which may

include pneumonia Wheezing or shortness of breath Poor growth and slow weight gain, in

spite of a good appetite Bowel disturbances, such as intestinal

obstruction or frequent, oily stools Infertility (men) and decreased

fertility (women)

What causes cystic fibrosis? Cystic fibrosis is caused by a genetic mutation; specifically

a mutation in a gene called CFTR. A genetic mutation is when the instructions found in all living cells become scrambled in some way, meaning that one or more of the processes of the body do not work in the way they should.

The CFTR gene normally creates a protein that regulates levels of sodium and chloride in cells. If the CFTR gene is defective, it results in a build-up of thick, sticky mucus in the body's tubes and passageways. These blockages damage the lungs, digestive system and other organs, resulting in the symptoms of cystic fibrosis.

Every person inherits two CFTR genes -- one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF.

Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children.

DIAGNOSING CYSTIC FIBROSIS

An early sign is that an affected child’s sweat is unusually salty, which can be noticeable when you kiss your child. 

Doctors diagnose cystic fibrosis based on the results from various tests. The most commonly used test is a sweat chloride test, which measures the concentration of chloride in sweat. Direct genetic testing to identify the CF mutation is also used. Most U.S. States screen newborns for cystic fibrosis.

Other Tests Genetic tests to find out what type of CFTR defect is

causing your CF. A chest x ray. This test creates pictures of the structures in

your chest, such as your heart, lungs, and blood vessels. A chest x ray can show whether your lungs are inflamed or scarred, or whether they trap air.

A sinus x ray. This test may show signs of sinusitis, a complication of CF.

Lung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.

A sputum culture. For this test, 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.

Treating cystic fibrosis As there is no cure for cystic fibrosis the aim of treatment is to

ease symptoms and make the condition easier to live with. For some rare types of cystic fibrosis, such as the G551D mutation, there are treatments which aim to compensate for a defective gene.

Treatment options include: antibiotics – to treat chest and lung infections physiotherapy – a range of exercises can help clear mucus from

the lungs bronchodilators – a type of medication that helps expand the

airways inside the lungs, making it easier to breathe inhaled mucus-clearing treatments – such as pulmozyme,

hypertonic saline (a strong salt solution) and mannitol dry powder In some cases a lung transplant may eventually be required if the

lungs become extensively damaged.

Dornase alfa This is a medicine given by nebulizer in some cases. It

helps to break down and to thin the thick mucus, making it easier to cough up and clear the mucus from the airways. It may reduce the number of lung infections and help to improve lung function.

Oxygen People with advanced lung disease may benefit from

oxygen, particularly overnight.Other medication to improve lung function - for example, ibuprofen and azithromycin - may also be recommended in some cases.

TREATMENTS FOR PANCREATIC PROBLEMS

NutritionThe enzymes needed to digest food are greatly reduced in most people with cystic fibrosis. Therefore children with cystic fibrosis need a high fat and carbohydrate diet. A dietitian will usually give detailed advice. High-energy drink supplements may also be needed. In addition, vitamin supplements are needed, as many vitamins in food are not absorbed very well. Being well nourished will also help you to fight any chest infections.Enzyme supplementsIn most cases, enzyme supplements are needed to help to digest food. (These replace the enzymes which normally come from the pancreas.) You need to take these supplements every time you eat food. This can mean taking many doses each day.

Who is affected

Cystic fibrosis is most common in white people of northern European descent.

It is estimated that one in every 2,500 babies born in the UK will be born with cystic fibrosis and there are more than 9,000 people living with the condition in this country.

Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.

The condition is much less common in other ethnic groups.

Outlook In the past, most children with cystic fibrosis would die of

related complications before reaching adulthood. The outlook has improved considerably in recent years due to

advancements in treatment, although most people with cystic fibrosis will have a shorter than average life expectancy.

It is now estimated that, on average, children born in the 21st century with cystic fibrosis will live for more than 50 years.

Thank you for attention.