Cystic fibrosis – causes, symptoms, complications and treatment [EXPLAINED]

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Cystic fibrosis is a genetic disease that primarily affects the respiratory system and the digestive tract. The disease is caused by mutations in the genes we inherit. The patient’s body produces excessive amounts of mucus, causing disturbances wherever there are mucus glands.

Cystic fibrosis is a systemic disease that affects the functioning of the respiratory, digestive and reproductive systems – all areas affected by it are associated with the presence of mucous glands within them.

1. Respiratory system disorders: Mucus clogs the bronchi and bronchioles and makes breathing difficult.
2. Digestive system disorders: Mucus blocks the ducts that bring digestive enzymes out of the pancreas and therefore prevents them from entering the intestines.
3. Reproductive system disorders: Mucus clogs the vas deferens, leading to loss of fertility.

The problem of cystic fibrosis in Poland affects one in every 5 children born. Both girls and boys suffer from cystic fibrosis. Approx. 2-5% of the human population are carriers of the mutant gene that causes cystic fibrosis.

If you want to know more about the most common genetic diseases, read on: The most common genetic diseases. How are they made?

The symptoms of cystic fibrosis

The symptoms of cystic fibrosis usually appear in the first days of a child’s life. The symptoms of this disease can be divided into three subgroups.

Symptoms of cystic fibrosis in the respiratory system (appear in over 90% of cases):

1. paroxysmal or chronic cough;
2. shortness of breath;
3. recurrent pneumonia and / or bronchitis, resulting in bronchiectasis and pulmonary fibrosis;
4. bronchitis;
5. polypy nose;
6. chronic sinusitis (appear mainly in older children and adult patients);
7. sticky and thick mucus that stays in the bronchi leads to the growth of bacteria;
8. chronic infection with blue pus sticks or golden staphylococcus.

Symptoms of cystic fibrosis in the digestive system (appear in about 75% of cases):

1. neonatal jaundice that lasts too long;
2. abundant stools with an unpleasant odor and fatty structure (already present in early childhood);
3. problems with weight gain and height;
4. prolapse of the rectal mucosa;
5. cholelithiasis in children;
6. recurrent pancreatitis in children;
7. blockage of the pancreatic ducts by thick and sticky mucus, the foods eaten are not digested and properly absorbed;
8. at the fetal stage – a twist of the intestine;
9. blockage of the salivary gland ducts with thick mucous discharge;
10. sometimes secondary biliary cirrhosis appears.

Other symptoms of cystic fibrosis:

1. delay in physical development;
2. “Salt sweat”;
3. stick fingers;
4. problems with muscle development;
5. constant fatigue (especially during physical exertion it is excessive).

You can do genetic testing for cystic fibrosis without leaving your home. The tests are carried out on the basis of the analysis of genetic material – blood samples.

What are the most dangerous diseases during childhood? Check: 5 most dangerous diseases in children. It is because of them that they most often die

It’s also worth remembering that the symptoms of cystic fibrosis develop in stages and usually require a scheduled medical consultation.

Cystic fibrosis is a disease that requires the involvement of more than one specialist. At the beginning, however, you should consult the child’s symptoms with a pediatrician, who, if necessary, will refer the child to specialist examinations. In case of diagnosed with cystic fibrosis regular check-ups must not be forgotten. However, in cases of worsening symptoms of the disease, an urgent medical consultation is required.

In addition, if your child is losing weight or getting tired quickly between follow-up visits, the planned follow-up visit should be accelerated as much as possible.

What infectious diseases do children suffer from? Check: Infectious diseases of childhood

Cystic fibrosis – diagnosis

The earlier you are diagnosed with cystic fibrosis, the better your chances are for a better and longer life. In diagnosis, the so-called sweat test followed by genetic testing. Molecular genetics can detect cystic fibrosis in a child during pregnancy.

Factors that suggest cystic fibrosis:

1. positive sweat test;
2. confirmation of diagnosis;
3. at least one clinical symptom of the disease;
4. a family history of cystic fibrosis that has been confirmed;
5. high value of the transmembrane potential difference.

If you want to know more about genetic testing, check out: Genetic research – benefits, course, costs

Cystic fibrosis and neonatal screening

Newborn screening tests have only been performed in Poland since 2009. This test is performed in the hospital after the baby is born. Thanks to such an early diagnosis, cystic fibrosis can be diagnosed at a very early stage in a child’s life. Screening is usually performed on the third day of a newborn’s life.

Newborn screening tests are the search for a disease in every newborn baby. This test is performed for congenital diseases, which are often asymptomatic in the first weeks of life.

The examination, in the case of cystic fibrosis, consists in taking a drop of blood from a newborn on a special tissue paper, which is then sent to a laboratory to determine the markers of the disease. Elevated values ​​may indicate cystic fibrosis and are indicative of patient referral to other additional tests that aid in the final diagnosis. According to the MATIO Foundation, the organizer of one of the two awareness campaigns about the disease, on average three sick children are born each week.

Newborn screening is not unique a method of diagnosing cystic fibrosis. A pediatrician may suspect a child with this disease if they notice the symptoms characteristic of cystic fibrosis. In this case, perform the so-called a sweat test in which the concentration of chloride in the child’s sweat is tested.

The sweat test involves stimulating the sweat glands to function. Then, absorbent blotting paper is glued to the skin of the forearm and the child is provoked to sweat, such as running in a warm room. If the test shows an abnormal and high concentration of chloride in the child’s sweat twice, the doctor will diagnose cystic fibrosis. In order to confirm this diagnosis, genetic blood tests should be performed to help determine the specific genetic mutation for this disease.

Confirmation of cystic fibrosis does not end the research process. When a child is diagnosed with cystic fibrosis, the functioning of the respiratory system and the digestive tract should be assessed. For this, various tests are performed. The tests to assess the functionality of both systems are performed once or cyclically. For example, the correct functioning of the lungs is assessed on the basis of spirometric tests, which are performed even several times a year.

Due to the course of cystic fibrosis, it is important to detect any possible infections in your baby as early as possible. Therefore, bacteriological tests are performed using the secretion expelled by the child. It is not uncommon to collect secretions during bronchoscopy. In older children and adults, sputum preventive examinations are performed several times a year.

In order to constantly monitor the current condition of the respiratory tract, the doctor may decide to perform lung imaging tests. For this purpose, X-rays or computed tomography of the chest are performed. In the case of diagnosed cystic fibrosis, the functionality of the pancreas and liver should also be monitored. For this purpose, laboratory blood tests and stool tests are performed. Your doctor may also recommend an abdominal ultrasound scan.

If you want to know more about how to interpret a chest CT scan result, read on: Chest computed tomography – how to interpret the results?

Cystic fibrosis – the course of the disease

How it actually looks everyday life of a person suffering from cystic fibrosis? Well, the course of this genetic disease can be different for each patient. Likewise, the severity of the symptoms of cystic fibrosis varies widely. On the one hand, cystic fibrosis can attack many organs and systems, and in other cases it will be mild, affecting only one selected organ.

This standard and typical course of cystic fibrosis is associated with impaired airway patency, pancreatic insufficiency, and elevated levels of sweat chloride.

The mucus that is produced in cystic fibrosis blocks the airways where bacteria can multiply. This, in turn, contributes to the development of further infections. Infections, on the other hand, gradually destroy the lungs, which in the long run causes irreversible damage, such as, for example, pulmonary fibrosis.

To help your body get rid of mucus and phlegm, and to improve lung function, it’s a good idea to train your breathing. For this purpose, use the breath trainer – Gima three-chamber respirogram or the breath trainer with the possibility of setting the resistance Threshold IMT Philips. You can find both products at favorable prices on Medonet Market.

Infections that attack the paranasal sinuses cause nasal polyps, purulent runny nose and recurring headaches. The ducts of the pancreas are constantly clogged, so digestive enzymes do not reach the intestines, and the body does not absorb valuable nutrients from food.

In the case of women, irregular periods are observed, and every fifth woman struggles with infertility. Moreover, if a woman with cystic fibrosis becomes pregnant, the risk of miscarriage is much higher than in the case of a healthy woman. In men, infertility affects the majority of people suffering from cystic fibrosis.

Consult your doctor about any concerns you may have and describe the symptoms in detail. If you do not have the option of a stationary visit, use the e-visit option. You can get an online consultation with e-Prescription, e-Waiver and e-Referral within 10 minutes.

What diseases are most common in premature babies? Read: The most common diseases of premature babies – respiratory distress syndrome, delayed development, enteritis

Treatment of cystic fibrosis

There is always more than one specialist involved in treating a child’s cystic fibrosis. Treatment is usually carried out by a team of specialists, including a pediatrician, pulmonologist, dietitian, physiotherapist or psychotherapist.

The main task of cystic fibrosis treatment is to relieve its symptoms and make the secretion fluid thanks to special medications. Some patients are treated with antibiotic therapy as an adjunct. The multiform course of cystic fibrosis requires diversified and expensive treatment, the monthly cost of therapy, depending on the progress of the disease, ranges from PLN 800 to PLN 3000. It is important to mention that in Poland, only a few drugs for cystic fibrosis are reimbursed.

Treatment of respiratory symptoms is primarily the evacuation of sticky and thick secretions from the respiratory tract and relieving chronic bronchitis with antibiotics. In order for the bronchi to be well cleared of secretions, apart from medications, physiotherapy of the respiratory system is used. Physiotherapy not only improves bronchial patency, but also destroys bacteria, inflammatory substances, and delays the development of lung and bronchial damage. Comprehensive treatment of cystic fibrosis in tandem with physiotherapy, it slows down irreversible changes in the airways.

For respiratory physiotherapy, Koflator – Flaem PulmoWaves cough assistant, which you can use at home. It will bring relief to people with cystic fibrosis.

Treatment of gastrointestinal symptoms should be based on the intake of large amounts of vitamins, especially vitamins: A, D, E and K, and correcting the deficiency of pancreatic enzymes. The right dose of vitamins helps to provide a set of dietary supplements available on Medonet Market. In addition, it is worth for patients to have a high-energy diet that would cover 20 – 150% of the daily caloric requirement for healthy peers of patients.

The fact is that there is no single and effective treatment for cystic fibrosis. These methods or drugs only allow to extend the life of a patient who still hopes that one day an effective remedy will appear. Patients with cystic fibrosis are at risk of malnutrition, so they follow special diets. In patients with additional hypercapnia, the diet should contain an adequate amount of protein and calories, while reducing the carbon dioxide they produce (a high-fat diet proves to be helpful).

New drug-based treatments that are in the trial stage:

1. taking cytokines to reduce inflammation;
2. oral vaccines against Pseudomonas aeruginosa – they use the reaction of the intestinal lymphoid tissue;
3. inhalation of liposomes – they make the mucus more fluid and easier to remove;
4. inhalations (UTP) – increase the hydration of the pericardial fluid by increasing the secretion of Cl into the bronchial lumen;
5. inhalations of recombinant antiproteases – their task is to counteract bronchial damage;
6. gene therapy – characterized by the introduction of the correct CFTR gene into the respiratory epithelial cells;
7. Hyperimmune immunoglobulins against the most harmful bacteria, Pseudomonas aeuroginosa

If you want to know more about the prognosis for cystic fibrosis, read on: What is the prognosis for cystic fibrosis?

In Poland life expectancy of a person with cystic fibrosis is about 20 years. For comparison, in the western part of Europe, the average life expectancy of a patient with cystic fibrosis is about 40 years. This clear difference in life expectancy is in a way related to the late introduction of the newborn screening test in Poland.

In addition, the low availability of highly specialized treatment and the high cost of treatment are of great importance, as drugs for cystic fibrosis are much less reimbursed than in Western European countries.

Treatment of cystic fibrosis as mentioned reduces the symptoms, but does not eliminate the cause of the disease. Treatment is aimed at stopping the progression of the lung disease. Therefore, the earlier the disease is diagnosed and the earlier treatment is started, the greater the chances of extending the patient’s life.

What genetic diseases do men have? Check: Seven genetic diseases that mainly affect men

While there is no prophylaxis, specialists point to the advantages of early detection of the disease, already in the womb. In addition, parents of a sick child may benefit from genetic counseling.

If you want to know more about rare diseases read on: Rare diseases – a review of selected disease entities

Cystic fibrosis and its complications

Cystic fibrosis is a disease that greatly affects a patient’s quality of daily life. Complications that may occur in the course of cystic fibrosis they most often concern the respiratory system, which is constantly exposed to recurring infections.

People suffering from cystic fibrosis are at risk of chronic bronchitis, sinusitis and lung inflammation. Infections, even if properly treated, usually recur. These recurring infections destroy the respiratory system, which reduces its efficiency, and in a later stage, pneumothorax, peripheral cyanosis or hemoptysis may occur. Ultimately, complete respiratory failure may develop.

Complications in the case of cystic fibrosis also apply to the digestive system. Patients who struggle with this disease are at risk of chronic pancreatitis, chronic intestinal obstruction or cirrhosis.

Cystic fibrosis also affects male fertility as the disease causes obstruction of the vas deferens. However, cystic fibrosis does not significantly affect female fertility.

If you want to find out how to quickly recognize your child’s disease, read on: How to quickly detect dangerous diseases in a child?

Given his life expectancy, Fryderyk Chopin may have suffered from a milder form of cystic fibrosis. Thanks to his caring care and good living conditions, his struggle with chronic ailments did not prevent him from composing. The work of the composer has an unforgettable value, and in the light of his experiences it takes on a deep dimension. Fryderyk Chopin’s biography may become a source of hope for many sick people, conveying the message that talent and passion cannot be stopped.

How to recognize a child’s disease by symptoms? Check: What is wrong with my child?

We inherit cystic fibrosis in the following ways:

1. autosomal – this means that cystic fibrosis is not related to the chromosomes (X, Y) that affect the sex of the child, so the disease can affect both sexes;
2. recessive – for cystic fibrosis to occur, it takes two abnormal elements of an allele gene that comes from both parents. A person who has a gene composed of two identical parts is considered homozygous, if the gene contains only one abnormal element, then such person is heterozygous and not sick, but is a carrier of the abnormal gene responsible for the occurrence of cystic fibrosis.

Read more about rare diseases of Poles: Millions of Poles suffer from “rare” diseases

Cystic fibrosis – recommendations for disease management

Cystic fibrosis cannot be curedhowever, a patient’s quality of life can be significantly improved if he adheres to a few basic principles in his daily life. First of all, at an early stage, you should carefully monitor your child and consult a doctor about all disturbing symptoms. In addition, if the family has previously had cases of cystic fibrosis, you should also see a specialist and explain your doubts. You can buy an appointment with an internist who will implement appropriate diagnostics and treatment at Medonet Market.

In the event that cystic fibrosis becomes a reality, it is worth following the doctor’s recommendations, as well as the following rules. Cystic fibrosis requires a certain amount of responsibility and regular follow-up from patients. The dates of control visits should depend on the current state of health, health and possible complications caused by cystic fibrosis.

It should be ensured that a patient with cystic fibrosis engages in physical activity frequently. People who live together with someone suffering from cystic fibrosis should remember the importance of frequent hand washing, which can prevent infections that are dangerous for the patient. In addition, the patient must follow the guidelines of their attending physician, and especially take care of their menu and daily diet. It is also important that a person suffering from cystic fibrosis does not come into contact with cigarette smoke. The patient himself should not smoke cigarettes, but also those around him should refrain from this addiction, because cigarette smoke adversely affects the already weakened lungs of the patient.

It is also worth mentioning that cystic fibrosis is not a reason not to give up vaccinations. Children diagnosed with cystic fibrosis should be vaccinated according to the immunization schedule. In addition, to reduce the risk of serious infections or their complications, it is recommended that you receive the flu vaccination every year after the age of 6 months. In addition, patients with cystic fibrosis should be vaccinated against hepatitis A and B, against pneumococci and Haemophilus influenzae type B.

What should I keep in mind when immunizing my children? Check: Vaccinations – types, compulsory vaccinations, adverse vaccination reactions

Source: MATIO Foundation for Help for Families and Cystic Fibrosis

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