Муковисцидоз
Муковисцидоз – это наследственное заболевание, поражающее легкие и пищеварительную систему, с образованием густой слизи и частыми инфекциями.
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Лекарства, которые могут применяться при Муковисцидоз
Информация приведена только в справочных целях. Перед приемом любых лекарств проконсультируйтесь с врачом.
Форма выпуска и дозировка: ИНГАЛЯЦИЯ ЛЕГОЧНАЯ, 0.24% о/о СУЛЬФАТ САЛЬБУТАМОЛАДействующее вещество: salbutamolПроизводитель лекарства: Laboratorio Aldo Union S.L.Отпускается по рецептуФорма выпуска и дозировка: ОРАЛЬНЫЙ РАСТВОР/СУСПЕНЗИЯ, 50 мгДействующее вещество: ИвакафторПроизводитель лекарства: Vertex Pharmaceuticals (Ireland) LimitedОтпускается по рецептуФорма выпуска и дозировка: ИНГАЛЯЦИЯ ЛЕГОЧНАЯ, 100 микрограмм/применениеДействующее вещество: salbutamolПроизводитель лекарства: Laboratorio Aldo Union S.L.Отпускается по рецепту
Cystic fibrosis is a rare inherited genetic condition that causes breathing and digestive problems. There is currently no cure, but there are medicines and supportive treatments that can help.
Symptoms of cystic fibrosis
If you have cystic fibrosis, your body makes a thick sticky mucus that can affect your lungs and digestive system. This can cause lots of symptoms and make you more likely to get infections.
Symptoms affecting your lungs include:
- a cough that does not go away and brings up mucus
- wheezing and shortness of breath
- frequent sinus infections (sinusitis) and chest infections
Symptoms affecting your digestive system include:
- constipation
- stomach pain, bloating and swelling
- large, greasy and sticky poos that are hard to flush away
Cystic fibrosis can affect other parts of your body and cause other symptoms, such as:
- in children, not growing as quickly as expected
- in adults, losing weight without trying to
- swollen fingertips and rounder nails
- very salty sweat, which can leave small crystals on your skin
But if the condition goes undiagnosed, symptoms may only become noticeable when a child is a teenager.
See a GP if:
- you or your child have symptoms of cystic fibrosis and you've not been diagnosed with it
- you're worried about your child's growth and development
- you're pregnant or planning a pregnancy and someone in your or your partner's family has cystic fibrosis
Causes of cystic fibrosis
Cystic fibrosis is an inherited genetic condition. It's caused by an altered gene being passed on to a child by both of their parents.
The altered gene causes mucus in the body to become thick and sticky.
If the child only gets an altered gene from 1 parent, they will not have symptoms but they could pass the condition on to any children they have, if their partner also has the altered gene. This is called being a carrier.
If 2 carriers have a baby, then there is a:
- 1 in 4 (25%) chance their child will have cystic fibrosis
- 2 in 4 (50%) chance their child will not get cystic fibrosis but will be a carrier
- 1 in 4 (25%) chance their child will not get cystic fibrosis or be a carrier
Genetic counselling
If either you or your partner are carriers or have cystic fibrosis, then you can ask for genetic counselling. This is when you talk to a specialist about having a baby, who can give you more detailed information about your options.
Your GP or care team should be able to give you more information about genetic counselling.
How cystic fibrosis is diagnosed
Cystic fibrosis is one of the conditions that all babies are checked for as part of the newborn blood spot test.
Tell the person taking the test if anyone in your family has cystic fibrosis.
If the test suggests your baby may have cystic fibrosis, they'll have another test to check the level of salt in their sweat. People with cystic fibrosis usually have high levels of salt in their sweat.
Older children and adults who might have cystic fibrosis will have a blood test followed by a sweat test to check for the condition.
Carrier testing
If a relative has cystic fibrosis or is a known carrier, you can arrange to be tested yourself for the gene. This is known as carrier testing.
You can also ask for carrier testing if your partner has cystic fibrosis or is a known carrier.
Treatments for cystic fibrosis
There is currently no cure for cystic fibrosis. But there are treatments that can help ease symptoms.
You'll be supported by different healthcare professionals. This may include specialist nurses and doctors, a physiotherapist and a dietitian.
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Medicines for cystic fibrosis
Medicines that may be used to treat cystic fibrosis include:
- medicines called CFTR modulators that help the lungs work better by reducing the effect the altered cystic fibrosis gene has on cells in the lungs
- medicines to widen your airways and make breathing easier, or make it easier to cough up mucus
- antibiotics for infections
- steroid medicine to reduce inflammation in the airways
Treatment and support for symptoms of cystic fibrosis
You may also need other treatments to help relieve symptoms and reduce the risk of complications.
These include:
- physiotherapy – a physiotherapist can teach you ways you can improve your breathing and posture to help clear mucus from your lungs
- medical devices – devices such as inhalers and specially designed masks can help with breathing and mucus clearance
- dietary and nutritional support – a dietitian can provide advice on a high-energy diet that is easy to digest and you may be given supplements to help your digestion
Some people may eventually need a lung transplant if other treatments are not controlling their symptoms, although this is not suitable for everyone.
How cystic fibrosis affects your life
Cystic fibrosis currently has no cure and can shorten your life.
However, new treatments mean the symptoms can often be managed and many people diagnosed with the condition today will live well past middle-age.
Living with cystic fibrosis can be hard, but having the condition does not always mean you cannot do things like go to school, have a family or get a job.
Healthy living with cystic fibrosis
There are some things you can do to help lower your risks of complications and stay as healthy as possible if you have cystic fibrosis.
Do
-
stay as physically active as possible – this can help with clearing mucus from your body
-
regularly wash your hands with warm water and soap – this can help reduce the chances of picking up some infections
-
consider not meeting other people with cystic fibrosis face-to-face – there's a higher risk of catching serious infections from another person with the condition
Don’t
-
do not smoke or vape – this can damage your lungs and make some cystic fibrosis medicines less effective
Complications of cystic fibrosis
People with cystic fibrosis can sometimes have other problems.
Some of these may only develop later on, as a result of the strain that the condition can put on the body.
These can include:
- diabetes
- liver disease
- difficulty getting pregnant or infertility
- weakening of the bones (osteoporosis)
- damage to the lungs
There are treatments that can help manage many of the problems linked to cystic fibrosis.
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