Cystic Fibrosis (Mucoviscidosis) – Causes, Symptoms, Treatment

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Overview

Cystic fibrosis is a disease where the body’s mucous secretions have a high consistency, are dry and adherent. This mucus like a glue hardens and causes symptoms, affecting many organs, especially the lungs and the pancreas. People who have cystic fibrosis may have respiratory problems and the lungs damaged. They may have problems with nutrition and digestion, growth and development. There is no cure for cystic fibrosis and the disease worsens in time.

Life expectancy for people with cystic fibrosis has increased steadily over the past 40 years. On average, people with cystic fibrosis live up to 30 years, although new treatments make it possible to prolong life until about 40 years.

Here is a video explaining what is cystic fibrosis

 
If your child has cystic fibrosis, you can use the following video to explain him the disease.

Article contents:

Overview

Causes

Risk Factors

Symptoms

Physiopathological mechanism

Specialist consultation

Watchful waiting

Recommended specialists

Investigation

Diagnosis

Treatment

Prophylaxis


Causes

Cystic fibrosis occurs when a child inherits one gene from each parent. This is called the transmembrane gene of the cystic fibrosis and encodes a transmembrane regulatory protein of the cystic fibrosis  (CFTR – Cystic fibrosis transmembrane conductance regulator). CFTR is the cause of the imbalanced adjustment of transmembrane passage of water and salts that leads to the secretion of a mucus with a drier and thicker consistency. These secretions prevent cleansing of the organs and keeping them in good condition, especially the lungs.

If a child inherits the CFTR gene from one parent, the child will not develop cystic fibrosis but he will carry it. This means that he can transmit the disease to his children.

Many people are unaware of the fact that they have the CFTR gene. The parent of a child with cystic fibrosis should be aware that he is not guilty of his child’s illness.


Risk Factors

Cystic fibrosis is a genetic disease. More specifically, cystic fibrosis is an autosomal recessive disease. This means that in order for you to develop the disease, it is necessary that you inherit the gene from both parents.

If a person inherits the gene only from one parent, that person will not develop the disease but will carry it. Cystic fibrosis gene carriers can transmit it to their children.

If a person is Caucasian (white) and is planning a pregnancy, that person should speak with her doctor about a genogram which will determine her chances of having a child with cystic fibrosis. The disease is more common in white people than other races.

The type of food, exercise, smoking, living environment do not lead to cystic fibrosis. The fact that a person has cystic fibrosis changes the behavior towards environment (he does not associate with people who smoke) or the behavior itself (such as a balanced diet) and may lead to a better life.


Symptoms



The symptoms of cystic fibrosis are caused by the sticky mucus production, by the increased consistency. Symptoms vary from person to person and not often evident in childhood.

The symptoms of cystic fibrosis in an infant or young child include:

- Bowel obstruction called meconium ileus or meconium obstruction

- Salty and moist skin

- Loss of appetite (lack of appetite), fatigue or weight loss. It’s called poor development (failure to thrive)

- Unusual bowel movements.They may include persistent diarrhea, bulky stools, high in fat (steatorrhea), which smell bad or constipation.

 

If bowel obstruction occurs, the abdomen of the child may protrude and bowel movements do not appear.

- Shortness of breath or early fatigue during the game

- Persistent coughing or wheezing (whistling respiration)

- Wet cough with mucous and sometimes bloody sputum (hemoptoic sputum)

- Difficulty or inability to do physical effort

- Rectal prolapse, when a part of the rectum tends to prolapse through the anus.

 

The associated symptoms can occur in late childhood or early adulthood:

- Digital clubbing (the deformation of the fingers’ extremities, curve and flattening)

- Nasal and sinus polyps (tumors)

- Infertility (inability to have children).


Pathophysiological mechanism

Although mucoviscidosis has specific symptoms, the symptoms of each person depend on the changes at the level of the mucus producing cells. Such cells are found in different organs and body systems, including:

- Lungs and  respiratory system. People with cystic fibrosis have thick, adherent secretions which retain bacteria. This is the cause of frequent respiratory infections and chronic lung disease.

- Pancreas and digestive system. The first symptom in the case of pancreatic and digestive damage can be caused by the meconium obstruction which prevents the elimination of the first stool of a newborn. In the first year of life a child may have persistent diarrhea or bulky stools with a lot of lipids and bad smell. The mucous secretions of cystic fibrosis can interfere with the functioning of the pancreas which affects the absorption of nutrients from food. As a result, children can not gain weight and may even decrease.

- Sweat glands. The parents of a newborn with cystic fibrosis notices the very salty skin of the child. Cystic fibrosis can lead to dehydration very easily and to very low levels of salts (electrolytes) in the blood. It is essential for people with CF to consume plenty of fluids

- Genitals. More than 95% of men with cystic fibrosis can not have children (they are infertile). Women with cystic fibrosis may bear a pregnancy but they may have difficulty when conceiving the baby.

- Bones. People with cystic fibrosis may have a higher rate of bone fragility than other people because their bones contain fewer minerals. Fragile bones lead to fractures, osteopenia or osteoporosis. Cystic fibrosis can cause painful and swollen joints (arthropathy or arthritis). These problems are most common in adults than in children.

Regular medical treatment, treatment at home and attempts to reduce infection can help people with cystic fibrosis have an almost normal life. If symptoms get worse you may need hospital treatment. Lung transplantation may be an option for people with serious lung diseases.

The average life

The average life of people with cystic fibrosis has increased steadily over the past 40 years. On average people with cystic fibrosis live up to 30 years although new treatments make it possible to prolong life until about 40 years and more. People with a mild form of cystic fibrosis can have a normal life expectancy. There is no cure for cystic fibrosis. However, experts hope that the discovery of the gene that leads to cystic fibrosis will help at the discovery of a new treatment.


Specialist consultation

It is very important early to diagnose and treat cystic fibrosis from the beginning. It is recommended to seek medical advice if your child has:

- Frequent lung infections (pneumonia), colds, persistent cough, shortness of breath or wheezing

- Coughing up secretions containing blood

- Does not gain weight or can not maintain his weight

- Has bulky stools, high in fat or diarrhea

- Has wet or salted skin

- Is easily tired to moderate effort

- Digital hippocratism (deformed and flattened fingers).

 

You should see your doctor if the state of a child diagnosed with cystic fibrosis worsens. Typical episodes:

- Has an accentuated or aggravated cough

- has wheezing again. maybe worsened

- Shows more respiratory problems than usually

- Has lost weight or does not gain weight without any explanation

- Has symptoms that indicate a serious problem about which the parent discussed with the doctor.


Watchful waiting

Watchful waiting is a period of time when the doctor and parents notice the symptoms without medical intervention. It is not a good idea for people who have cystic fibrosis. If a child shows any signs of cystic fibrosis, even if they seem insignificant, he must be taken to a specialist.

 


Recommended specialists

The following specialists can diagnose and treat cystic fibrosis:

- pediatrician

- GP

- pneumophtisiolog

- Doctor of internal medicine

- Gastroenterologist.

 

Other doctors that may be involved in the child’s care:

- lung therapist

- physiotherapist

- dietitian

- social assistant

- psychologist

The centers specialized in cystic fibrosis offer the best treatment, the most compliant to the patient’s situation by reference to the medical, nutritional and emotional needs of people with cystic fibrosis.


Investigation

The tests for cystic fibrosis can be made at any time before or during pregnancy, in childhood or adulthood. The genograms for couples who are planning a pregnancy or will have a child can help to determine the parent which carries the gene which represents the cause for cystic fibrosis. Newborns can be investigated for cystic fibrosis shortly after birth, especially if they have symptoms or are at risk for inheriting the gene. Most people know the disease from childhood.


Diagnosis

A case history and a physical exam are the first steps in diagnosing cystic fibrosis, followed by screening or laboratory analyses.

When diagnosing cystic fibrosis the following is required:

- Small bowel obstruction at birth, called meconium obstruction or meconium ileus

- Salty and moist skin

- Loss of appetite (lack of appetite), fatigue or weight loss. It’s called poor development (Failure to Thrive)

- Unusual bowel movements. They may include diarrhea which lasts long, large stools and with a lot of fats, bad smell or constipation. If bowel obstruction occurs the abdomen of the child may protrude and the bowel movements do not appear

- Shortness of breath or fatigue during the game early or repeated respiratory infections like bronchitis and sinusitis

- Persistent coughing or wheezing

- A brother or sister who has cystic fibrosis

- Positive screening at birth. For this purpose a small amount of blood is collected to verify the quantitative presence of an enzyme called immunoreactive tripsinogen (IRT). Infants with cystic fibrosis have more IRT than normally.

In conclusion, they must have at least one of the following:

- Two positive tests of the sweat glands, on different days. The sweat tests measure the level of salt and sweat. People with cystic fibrosis have a higher  quantity of electrolytes in the sweat than normally

- The positive genogram for the genetic defect which is known as the cause of cystic fibrosis. The genogram can be done with a blood sample or an intrauterine biopsy before giving birth ( chorionic villus biopsy or amniocentesis)

- Testing the difference in potentiality of the nasal mucus. This test uses electrodes on the lining of your nose to see how  the electrolyte move through the membrane.

 

Monitoring cystic fibrosis

Some tests can help your doctor to monitor children’s cystic fibrosis.

These tests include:

- An examination of the stool to see how well fat and other dietary components are digested and absorbed

- An examination of the sputum to examine the mucous secretions and bacteria that cause infections

- Chest radiograph, a picture of the chest which includes the heart and the lungs

- Blood gas analysis (Astrup) to measure the level of oxygen and carbon dioxide in the blood which reflects the funtioning of the lungs

- Respiratory tests to determine lungs’ damage by observing expiration and inspiration

- Computed tomography for identification of special diseases of the lung, pancreas or other organs

- Blood tests such as glucose and liver function tests to identify some complications of cystic fibrosis.

 

Early diagnosis

The screening for the presence of the gene that causes cystic fibrosis can be made by both infants and adults. The tests include:

- Screening of newborns. The level of immunoreactive trypsin, a digestive enzyme, is measured in blood. High levels of IRT suggest cystic fibrosis, although the reliability of this test is still discussed.

- Genetic tests. These tests identify the most common defects or mutations of the gene which encodes the cystic fibrosis transmembrane transport regulation (CFTR). The genetic tests can be made during pregnancy by chorionic villus biopsy or amniocentesis. Also, some couples who plan a child are subject to genetic testing in order to see if any of the future parents have CFTR. The genogram can help todetermine the risks if they choose to have children.

 

If both parents have the gene, there are  25% chances of conceiving a child without genetic problems. However there are 25% chance of having a child with cystic fibrosis and 50% of having a child who will be carrier. This means that the child does not have cystic fibrosis but he can transmit the disease to his children.

If only one parent is carrier of the CFTR deficient gene, the child will not have cystic fibrosis and there are 50% chances for this child to be a carrier.

If someone is interested in a genogram for cystic fibrosis screening, you should consult your doctor. Screening should include genetic counseling in order to understand the test results.


Treatment

Overview

Most people are diagnosed with cystic fibrosis before reaching one year. After a child is diagnosed, a team of doctors will recommend a treatment plan based on the child’s specific problems. Treatment is different for everyone, but it usually involves a combination of medicines and a specific home treatment. Home treatment involves mucus elimination, a healthy diet and exercise in order to prevent infections and complications. It can be challenging to follow a treatment plan, but doing so will  prolong and improve the child’s life.

The best treatment of cystic fibrosis is done in specialized centers. These centers address to the medical, nutritional and emotional needs of people with cystic fibrosis.

Many people with cystic fibrosis and their families need emotional support for living with this incurable genetic disease that shortens patient’s life. Support groups for counseling and self education about the disease may be useful.

 

Initial treatment

Usually, cystic fibrosis affects the respiratory and digestive system but it can affect only one or the other. It can affect other body parts as well. Tests such as coproculture, sputum culture or lung function tests can help your doctor to know the situation and the extent of the evolution of the disease. The doctor will be interested in your child’s immunizations and required vaccinations. Children with cystic fibrosis should have all the recommended vaccines besides the on for pneumococcus and flu. Your doctor will want to ensure that the patient is eating properly and gaining weight at a normal rate. He will record your weight, height and head perimeter in order to know the evolution of the child in time.

 

The doctor may also talk with the child’s parent about different therapies used to treat cystic fibrosis.

These include:

Respiratory therapy. Respiratory therapy refers to the treatment that slows down the evolution of lung damage and improves breathing. The goal of this therapy is to reduce infection and diminish mucous secretion in order to improve the respiratory function. The pharmacological treatments in respiratory therapy include:

- Bronchodilators (such as Tornalate, Albuterol or Metaprel) are used to make breathing easier. Bronchodilators also help to eliminate secretions

-Deoxyribonuclease (such as Pulmozyme) is used to thin the secretions of the respiratory system

- Mucolytics (Mucomyst) to thin the secretions in the lungs and intestines. Still they are not used frequently due to lung irritation.

Other methods to remove lung secretions include some types of movements, coughing and exercises known as respiratory clearance techniques. These include:

- Postural drainage and chest percussion to help the drainage of pulmonary secretions by accentuated cough

- Breathing exercises to improve breathing and strengthen the respiratory muscles

- Voluntary cough that helps the drainage o the mucus by breathing and coughing in a specific way

- Exercises. Aerobic exercises can improve lung function. Consult your doctor about exercises specific to your child

 

- Alternative methods of airway clearance such as the oxygen mask with positive expiratory pressure (PEP), high-frequency chest compression vest, or Flutter valve. These methods are used to clear the mucus from the lungs.

Digestive therapy is an important component of initial treatment. This treatment works to replace certain enzymes, helps to the absorbency of vitamins and minerals in the necessary quantity and to prevent or treat intestinal blockages. Digestive therapy includes:

- Enzyme replacement therapy (such as Creon or Pancrease) helps the intestines to absorb nutrients from food

- Nutritional therapy to help the replacement of lost nutrients. It may include taking vitamins, eating high-calorie aliments, high in fat, nutritional fluid intake, nutritive intravenous supplements and in some cases feeding through gastrostomy (stomach tube)

- Preventing intestinal blockages with laxatives (in order to avoid constipation) and enemas

- Antibiotics – drugs that act on bacteria that they destroy – are often used to treat fibrocystic diseases. Some antibiotics are prescribed in order to prevent infection (such as tobramycin or Zithromax), while others may be prescribed to treat infections (such as Cipro).

Outpatient treatment (at home)

Home treatment plays an important role in the successful treatment of cystic fibrosis and the improved quality of life. More specifically, home treatment is important for:

- the drainage of respiratory secretions (airway clearance)

- the prevention of infections

- the improvement of nutrition and increased resistance

- Caring for a child with cystic fibrosis can be quite demanding. It is normal for parents to feel guilty and overwhelmed by the time limit and the increased emotions that they have when looking after a  child with a long term illness, which shortens the average life. Parents should seek help for facing these problems through counseling and psychological support, auto-education about the disease and caring for their own health. If parents feel mentally and emotionally strong on the psychic level, they can give their baby the best possible treatment.

 

Airway clearance methods

Doctors, parents, brothers or other specialized caretakers can apply these methods to a child with cystic fibrosis. The adolescents and adults with cystic fibrosis can learn to do these maneuvers alone:

- Postural drainage and chest percussion. Drainage and percussion prevents the mucus from sticking to the airways so that they can be easily eliminated by coughing

- Deep breathing exercises. These breathing techniques help to make full exhalation by strengthening the abdominal muscles used in breathing

- Voluntary cough. Voluntary cough is a specific method of breathing and coughing which helps the drainage of the mucus from the lungs. Your doctor or therapist can teach the parent or the child how to do these exercises

- Alternative methods of airway clearance use apparatus or other devices used to eliminate secretions

- The improvement of nutrition and strength

- Nutritional , high in calories diet is recommended

- Drink plenty of fluids

- Addition of salt to food especially during hot days

- Exercises.

 

Medication Choices

The drugs for cystic fibrosis help to keep the lungs in the best condition possible,  to reduce and control lung secretions, to replace digestive enzymes.

The drugs for cystic fibrosis include:

- Medicines to treat infections

- Antibiotics (such as azithromycin, Keflex and Cipro and TOBI- tobramycin)

- Bronchodilators (such as Tornalate, Albuterol, Metaprel)

- Anticholinergics (Atrovent)

- Medicines to control the amount and viscosity of secretions

- Deoxyribonucleoside (such as Pulmozyme)

- Mucolytics (Mucomyst)

- Drugs that reduce inflammation

- Anti-inflammatory drugs (NSAIDs) (Motrin)

- Membrane stabilizers (Intal or Tilade)

- Corticosteroids (Deltasone, Medrol, or Flovent)

- Drugs that replace the digestive enzymes

- Enzyme replacement therapy (Creon or Pancrease).

 

To be retained!

Some drugs work better for some people than they do for others. A treatment that works for one person may not be effective for another person. It may require more time to find a treatment which is best suitable for adult or child.
 
Surgical treatment

Surgery may be necessary to correct complications of cystic fibrosis.

The methods of treatment may include:

- Chest drainage through a tube or thoracoscopy in order to treat lung collapse (pneumothorax)

- Lung transplantation. Lung transplantation can be done to people with severe respiratory diseases

- Solving a collapsed bowel or resection of the bowel obstruction

- Abdominal or perineal surgical resolution of rectal prolapse

- Resection of nasal polyps.

 

If the child can not get the nutrients his body needs from food, the child needs a tube so as to be fed.

People who have prolonged treatment with intravenous antibiotics may be put a cannula (semi-permanent needle) in order for them not to repeat intravenous needle puncture.

One of the surgical treatments is lung transplantation.

To be retained!

Lung transplantation is generally recommended only for people who have severe lung diseases, because the risks of subjecting to an operation like this can be greater than the benefits. If the patient is a candidate for lung transplantation, he will have to wait for a donor lungs for a long time (from 6 months to 4 years).

 

Other treatments

Recently discovered treatments focused on treating the cause and the symptoms of cystic fibrosis. Scientists are now busy with a therapy based on the transfer of genes which tries to solve the genetic defect that causes cystic fibrosis. Gene transfer therapy involves inserting healthy genes into the lungs of people with cystic fibrosis genes. Researchers are studying also a treatment based on a protein which repairs or on a therapy with a protein that assists. This therapy involves the administration of drugs that help deficient gene to function better, allowing a small amount of salt and water to pass through the membrane.

Therapies based on gene transfer or protein repair are still in experimental stages and clinical trials have been made about it.

 


Prophylaxis

Cystic fibrosis is a genetic disease that cannot be prevented. However, people with cystic fibrosis may prevent more serious diseases such as lung infections through:

- Current immunization. Children with cystic fibrosis should have all the recommended vaccines besides the one for pneumococcus and flu

- Avoid smoking and smoke

- Use airway clearance methods such as the postural drainage and the chest percussion

- Eating nutritious and high in calories

- Regular inspection, frequent testing and treatment compliance.

We recommend specialized treatment in a specialized clinic, if possible.

In conclusion, parents of a newborn diagnosed with cystic fibrosis should treat the child at home and avoid placing him in the nursery at least until after the first six months if possible.

 

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