Cystic fibrosis in babies and children

Description

Cystic fibrosis, or cystic fibrosis, is a genetic disease based on a defect in the genetic material and is not curable. This disease already exists at birth, but is usually diagnosed later. Breathing and digestion are severely impaired because the secretion of certain body fluids (mucus, sweat) is disturbed.

The secretions of the lungs, pancreas and other organs are more viscous than in healthy children. As a result, fine bronchial branches, ducts of the pancreas and bile become clogged.

Cystic fibrosis leads to the loss of function of the respiratory tract and digestive tract. Metabolic performance becomes increasingly impaired over time. This process cannot be stopped, but it can be delayed by early and specially adapted therapy measures. Affected persons have a significantly shorter life expectancy.

The intensity of the symptoms varies from case to case, as does the first appearance of symptoms and the time of diagnosis.

Cystic fibrosis is one of the most common inherited metabolic disorders. In Austria, a child with the disease is born every 15th day. Every 20th child is a carrier of the causative gene without the onset of the disease.

A genetic defect of the 7th chromosome causes the so-called cystic fibrosis. Mostly the protein CFTR (Cystic Fibrosis Separating Membrane Regulator) is affected, which contains the chloride channel building instructions.

Defective chlorine ion channels cause glandular cells (e.g. in the lungs) to produce mucus instead of liquid secretion.

This blocks the salt transport in various cells. Cystic fibrosis mainly affects the lungs, sinuses, pancreas, intestines, bile ducts, male gonads, and also in sweat glands, which produce viscous mucus with a high salt content.

If either parent has cystic fibrosis, the children will inherit the trait but will not develop the disease. However, they may very well pass the disease on to their own children.

Offspring only become noticeably ill if both parents are affected. However, this hardly ever happens, as men with cystic fibrosis are almost always infertile and women at least less fertile.

Cystic fibrosis can be diagnosed before birth (prenatally).

The first signs usually appear in the first year of life. More rarely, symptoms are not recognized until the onset of puberty.

Typical symptoms:

• Extremely salty sweat, resulting in increased electrolyte loss.
• Newborns do not gain weight although they drink enough, appear undernourished due to digestive disorders and do not grow.
• Anal prolapse (bowel protrusion from the anus) in babies
• altered appearance and smell of the stool
• intestinal impaction or acute intestinal obstruction, therefore special care should be taken in case of abdominal pain!
• persistent diarrhoea and flatulence, rarely constipation
• chronic failure to thrive and growth retardation despite ravenous hunger
• chronic irritating cough (similar to whooping cough), progressive shortness of breath
• increased, viscous mucus of the respiratory tract, frequent pneumonia caused by bacteria
• expectoration of mucus with blood
• Gall bladder inflammation and stones
• Infertility
• jaundice (icterus) due to liver dysfunction
• Heart problems
• Diabetes mellitus (diabetes)

Between the 3rd and 5th day of life, cystic fibrosis can be determined by the determination of trypsinogen (enzyme) in the blood. However, this examination is not a routine examination.

Parents often notice the above-average salt content on the skin of their child. Sweat can be tested for its components (especially concentration of salt).

Family history often provides information about the risk of developing cystic fibrosis. Even if siblings do not show symptoms, suspicions should be investigated. X-rays of the upper body can reveal blocked airways, and laboratory tests provide information about the functioning of the digestive organs.

The genetic defect can usually be detected during pregnancy. A "transepithelial potential difference" of the nasal mucosa can also be used for diagnosis.

Cystic fibrosis is not yet curable.

However, the quality of life of sufferers can be significantly improved through physiotherapy, inhalation and drug therapy approaches.

Affected children require constant medical monitoring. Hospital stays are unavoidable, as the child learns to cope with his or her illness there.

Lungs

The prevention of lung complications is paramount. The viscous mucus must be removed from the lungs regularly and bacterial infections must be treated.

Respiratory physiotherapy can be used to expel mucus using a variety of techniques.

Inhalation therapy (beta-2 sympathiomimetics) is used to dilate the bronchial tubes and clear mucus. Early use of antibiotics can prevent bacterial infections of the respiratory tract.

If lung function deteriorates significantly, a lung transplant is an option. The prognosis after a successful transplant is generally positive.

Digestive tract

High protein, high caloric value diets and vitamin supplements compensate for digestive deficiencies. Mineral supplementation is also important to prevent shock. To compensate for pancreatic insufficiency, digestive enzymes are given with meals.

Vaccinations

Sick children should be vaccinated against measles and pneumococcus (among others, the causative agent of pneumonia). Without vaccination, these infections can be life-threatening.

The condition can also worsen greatly if flu is added to lung disease. For this reason, the annual flu vaccination is recommended.

Cystic fibrosis patients have an average life expectancy of 32 years.

However, due to the constantly improving therapy options, this can be extended to more than 40 years, and the trend is rising.

The top priority is early detection and ongoing medical treatment of cystic fibrosis.

Complications

• Shortness of breath due to impaired lung ventilation
• (partial) lung collapse
• chronic bronchitis, pneumonia and fungal infections of the respiratory tract
• shock due to altered electrolyte balance
• heart failure
• liver cirrhosis due to continuous impairment of the liver
• Gall bladder inflammation and stones
• Digestive disorders due to insufficient and inflamed pancreas (pancreatitis)
• Diabetes Mellitus (diabetes)
• Intestinal intussusception (intussusception) or acute intestinal obstruction (ileus)
• Infertility in adults

Since cystic fibrosis is a hereditary disease, there is no possibility of prevention.

If there is any uncertainty about a possible disease, a genetic counselling centre can be consulted. The examination of the gene CFTR serves a possible diagnosis.

The life expectancy and quality of life can be positively influenced by early recognition and rapid start of therapy.