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Cystic fibrosis (baby and infant)

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Cystic fibrosis (baby and infant)

 

Class
Gastrointestinal and respiratory systems
Description
Cystic fibrosis is the UK’s most common life-threatening inherited disease. It affects the lungs and digestive system, making it difficult to breathe and absorb food properly.

As an inherited disease, cystic fibrosis shows racial differences. It is more common in people of white European descent than it is in people of Afro-Caribbean or Asian descent. The chances of a baby having cystic fibrosis are about 1 in 3,300 in families of European descent and about 1 in 15,300 in families of African descent. On average, an estimated 1 out of every 2500 babies born in the UK, about 5 children per week, are affected with the disease. Three children die each week because of cystic fibrosis.

When the Cystic Foundation Trust was founded in 1964, it was exceptional for a child to live for over 5 years. Now, because of improvements in the management of the disease, around half of the 8,500 people in the UK with cystic fibrosis can expect to live over 38 years of age.
Causes
Cystic fibrosis is an inherited disease caused by a faulty gene (the Cystic Fibrosis Transmembrane Conductance Regulator – or CFTR gene). This gene is responsible for producing a channel in cell membranes through which salts and water pass. A faulty CFTR gene can alter the function of many organs, but especially the lungs, pancreas and gastrointestinal tract. Mucus secreted by these organs lacks water and becomes thick and sticky, causing a blockage and preventing the organ from working properly.

Cystic fibrosis is an autosomal recessive disease. This means that in order to develop the disease a baby has to inherit two cystic fibrosis genes from its parents, one from the mother and one from the father. If the baby inherits only one cystic fibrosis gene the baby does not develop any symptoms but becomes a carrier of the disease, able to pass the gene on to his or her children. There are around 2 million people in the UK – about one person in 25 of the population – who carry the faulty CFTR gene, but they show no symptoms of cystic fibrosis.
Symptoms
Cystic fibrosis is a multi-system disease meaning that many organs throughout the body are affected, but those most affected by the faulty CFTR gene are the cells lining the gastrointestinal system, pancreas and lungs.

In the gastrointestinal system, the thick mucus can clog the intestines. 1 in every ten babies born with cystic fibrosis will be unable to pass meconium, the first motion or poo normally produced in the first few days after birth. This condition is called meconium ileus. The baby’s tummy will become swollen and painful and an urgent operation may be required to clear the obstruction.

In the pancreas, the thick mucus prevents the normal secretion of enzymes that are responsible for the digestion of food. Important nutrients such as proteins and fats are not absorbed and the baby will fail to gain weight and thrive. The fat which is not absorbed is excreted as very foul smelling oily faeces or poo.

In the lungs, the thick sticky mucus clogs the airways and makes breathing difficult. The baby may develop a persistent cough or a wheeze. The lungs become a breeding ground for bacteria, especially a bacterium called Pseudomonas aeruginosa, leading to severe chronic chest infections such as pneumonia.

The severity of symptoms may vary from baby to baby and in those babies with mild symptoms, cystic fibrosis was sometimes only be suspected after several weeks when they failed to gain weight or they developed breathing problems. Other symptoms include a very salty sweat and, later in life, complications such as diabetes, liver disease, infertility and osteoporosis may develop.
Screening and Diagnosis
There are a number of tests that can be used to determine if couples are at risk of producing a baby with cystic fibrosis or if a baby has cystic fibrosis.

Carrier testing
On average, about 1 person in 25 in the UK carries the gene for cystic fibrosis, but the chances of being a carrier increase if there is a history of cystic fibrosis in the family. As carriers of the gene for cystic fibrosis are normally healthy and show no signs of the disease, the only way to determine if someone carries the gene is to perform. a carrier or cascade test (so called because the test is cascaded out to, or offered to relatives).
A simple mouthwash test is available on the NHS to individuals considering starting a family who have a relative with cystic fibrosis or a relative who carries the gene for cystic fibrosis. Referral for screening is through the family doctor and results are usually available within 4 to 6 weeks. Individuals who do not have relatives with genes for cystic fibrosis may ask for the test to paid for privately.

A negative carrier test result does not rule out the possibility of being a carrier, but the likelihood is extremely small.
If one partner is a carrier and the other has a normal test result, the chances of the baby having cystic fibrosis is also very small, but 1 in 4 babies may be a carrier.
If both partners are carriers, then there is a chance that 1 in 4 babies will have cystic fibrosis, 2 in 4 babies will be a carrier and 1 in 4 babies will neither have the disease nor be a carrier.
Genetic counselling is usually offered with the carrier test to hep put the results into context and to help couples decide what they want to do.

Antenatal testing
This test is used early in pregnancy to tell whether a baby has cystic fibrosis. It is usually offered to mothers who are recognised as being at a high risk of having a baby with cystic fibrosis.
Chorionic villus sampling can be performed after 9 completed weeks of pregnancy. A small piece of the placenta is removed and sent to a laboratory for analysis. Cells from the placenta are grown in a culture for about 7 days then checked for the presence of the abnormal cystic fibrosis genes.
Amniocentesis is performed at 15–20 weeks of pregnancy. A needle is used to take a small sample of amniotic fluid from around the baby that contains some of the baby’s cells. The baby’s cells from the amniotic fluid are grown in a special culture for about 10–12 days then checked for the presence of the abnormal cystic fibrosis genes.

Newborn testing
All newborn babies in the UK are now tested for cystic fibrosis within the first week of life. The test, called the Guthrie test, involves taking a small sample of blood from the baby’s heel. The test measures levels of IRT (immuno-reactive trypsin) in the blood. If IRT levels are raised it indicates cystic fibrosis and the test is repeated to confirm the results.
In babies over 2 months of age, a diagnosis of cystic fibrosis can be confirmed by abnormal sweat test results. The sweat test measures the amount of salt in the baby’s sweat. The test may be performed in babies with symptoms or a family history suggestive of cystic fibrosis. Screening of babies for cystic fibrosis is important because the sooner that cystic fibrosis is diagnosed, the sooner appropriate therapy and treatment can begin.
Treatment
If a baby is diagnosed with cystic fibrosis then he or she will be referred to a team of doctors, nurses, dieticians and physiotherapists that specialise in the management of cystic fibrosis. They will work with the parent(s) to devise a management and treatment plan to ensure that the baby has a full and healthy life as possible. Regular tests and monitoring will be performed to keep a check on the baby’s growth, development and well-being.

Treatment is aimed at controlling the symptoms of the disease and prolonging life, there is no cure for cystic fibrosis. There are two main types of treatment, to improve nutrition and to reduce lung infections.

Improving nutrition – As the pancreas becomes blocked with mucus and is unable to secrete the enzymes needed for the proper digestion of food, pancreatic enzymes containing lipase, protease and amylase have to be added to the baby’s feeds. These enzymes breakdown fats, proteins and carbohydrate that are present in milk and other foods allowing these essential substances to be absorbed for use by the baby. Additional fat-soluble vitamins A, D and E and vitamin K may also be given to make up any deficiencies. The dietician will decide how much of the pancreatic enzymes and which vitamins are to be used.

Mothers are encouraged to breast feed their babies who have cystic fibrosis. Breast milk is easily digested and absorbed by the baby and contains essential antibodies to help protect the baby against infections. To breastfeed a baby with cystic fibrosis, the mother expresses a little breast milk and mixes it with the pancreatic enzymes. This mixture of breast milk and enzymes can be given from a spoon before each feed.

If the baby is on formula milk, the enzymes can be added to a small amount of the milk after it has been made up. It can then be given to the baby from a spoon before the feed. In some cases, babies will require special formula milks that provide extra energy and other nutrients, or special formula milks that are more easily digestible. The dietician will advise which formula milks are most suitable. The special formula milks are obtainable free of charge on an NHS prescription.

At around 6 months of age when weaning begins and solid foods are introduced to the baby’s diet, the dietician will again provide advice on the types of food suitable to maintain the baby’s growing needs and how much of the pancreatic enzymes need to be added to each type of food.

An excellent factsheet entitled ‘A guide to feeding infants’, is available from the Cystic Fibrosis Trust on: Eating well feeding_infants
 
Reducing lung infections – Chest physiotherapy helps dislodge the sticky mucus from the lungs. In babies, the techniques employed include postural drainage and chest percussion. Postural drainage uses gravity to allow mucus to drain from parts of the lungs enabling air to reach these areas. Percussion involves chest clapping to loosen secretions. The physiotherapist explains how and when each of the techniques is performed. If the baby is well, it may not be necessary to give chest physiotherapy every day, perhaps only when the baby develops a cough or a wheeze. Play activities are introduced at the outset to encourage babies to breathe deeply. As the baby develops into a toddler, the chest physiotherapy techniques are adapted so the child can take a more active role.

Should an infection develop, the most likely cause of the infection is a bacterium called Pseudomonas aeruginosa. Treatment usually involves the use of an antibiotic called tobramycin which is administered by a nebuliser, a special type of inhaler. Other antibiotics may be given intravenously if the infection becomes particularly serious.
 
Although there is no cure for cystic fibrosis at the present time, the future for babies with cystic fibrosis is looking brighter. Thanks to improved treatments, life expectancy is increasing and their quality of life is improving. Most promising, is the prospect of gene therapy. Now that the faulty CFTR gene has been identified, research funded by the Cystic Fibrosis Trust, is investigating ways of introducing a healthy gene into the lungs of people with cystic fibrosis.

 

When to consult your pharmacist
Talk to your pharmacist if you need help on any of the medicines for cystic fibrosis that have been prescribed for your baby. If you are not sure what the medicines are for or how to give them to your baby, your pharmacist will be able to help. The pancreatic enzymes are available in a variety of different forms and strengths and your pharmacist will be able to advise you how to add them to the baby’s feeds.
When to consult your doctor
About 1 person in 25 is a carrier of the faulty CFTR gene responsible for cystic fibrosis. If you are thinking of starting a family and you are worried that you and your partner may be carriers, speak to your doctor. Genetic testing is available to adults with a family history of cystic fibrosis and partners of people who have the disease. The CFTR gene can be detected by a simple mouthwash test. Genetic counselling will be offered if the test is positive.

If you are pregnant and you have good reasons to suspect that your baby may have cystic fibrosis, then there are antenatal tests such as amniocentesis or chorionic villus sampling that can be performed early in your pregnancy to determine whether the baby has cystic fibrosis. If the tests are positive, you will be offered counselling to help you decide whether you want to continue or terminate the pregnancy.
Cystic Fibrosis Trust
The Cystic Fibrosis Trust is the UK’s only national charity dedicated to all aspects of cystic fibrosis. It funds research to treat and cure cystic fibrosis and aims to ensure appropriate clinical care and support for people with the condition.

Further information can be found on the website www.cftrust.org.uk. Help and advice for those affected by cystic fibrosis is available through the Helpline on 0845 859 1000. For all other inquiries the switchboard is 020 8464 7211.


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