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Cystic fibrosis is a congenital metabolic disease. Body fluids such as saliva, bronchial mucus or pancreatic secretions are much tougher than usual due to genetic predisposition. Consequences include respiratory problems and indigestion. Cystic fibrosis is not curable. With consistent therapy, however, the course of the disease can be slowed down.

The cause of the disease are defects in the genetic material. Cystic fibrosis is therefore not curable. Time of diagnosis and severity of symptoms can vary widely individually. In many children cystic fibrosis makes a massive impact from birth, in other cases, it is recognized later.

Cystic fibrosis is a genetic disease. It has always been present since birth. But the classic cystic fibrosis symptoms do not always occur in childhood. However, there are often already nonspecific instructions that should be followed. This is especially true if cases of cystic fibrosis have already occurred in the family.

In most cases, in cystic fibrosis symptoms of the lungs occur only in slightly older infants. Newborns usually have no breathing problems. Cystic fibrosis symptoms are often expressed in the form of a cough-throat-like, chronic, irritating cough in slightly older children. The mucus in their respiratory tract is increased, tough and viscous. This obstructs the airflow in the lungs. Over time, a progressive respiratory distress develops.

In patients with cystic fibrosis, the pancreas often becomes inflamed. It secretes a secretion that contains, among other things, enzymes for fat and sugar digestion. In cystic fibrosis sufferers, the secretion due to its viscosity condenses back and causes inflammation.

Cystic fibrosis is not curable. Children born with cystic fibrosis suffer the effects of the disease throughout their lives. However, a combination of physiotherapy, medication and inhalations can significantly slow the progression of the disease. A cystic fibrosis therapy should therefore primarily achieve that those affected can lead as normal a life as possible.

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Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. 2020-03-13 Cystic Fibrosis Treatment
Profiles of Doctors for Cystic Fibrosis Treatment
Cystic Fibrosis Treatment

Cystic fibrosis is a fatal hereditary disease. Thanks to improved early detection, children now have a life expectancy of up to 45 years. But it needs a comprehensive treatment.

Cystic fibrosis is an inherited and non-contagious metabolic disease that occurs from birth. It is a dysfunction of the mucous glands (exocrine glands) such as pancreas, bronchi and sweat glands. These glands produce highly viscous mucus that clogs the glands. As a result, the secretions can not drain and cause inflammation. The most affected by the effects are the respiratory tract and the gastrointestinal tract.

A cure for cystic fibrosis is not possible, but the symptoms can be treated more or less well. Unfortunately, many patients still die young.

About one in every 2,500 newborns in Germany is affected, so that 300 children are born each year with cystic fibrosis. Nearly four million people in Germany can inherit the disease. The average life expectancy is 30 to 40 years.

Symptoms of Cystic Fibrosis

The most common symptoms of cystic fibrosis are bronchial infections, digestive problems and growth disorders. Many symptoms of cystic fibrosis are similar to those of whooping cough, asthma, bronchitis or celiac disease.

More symptoms of cystic fibrosis at a glance:

  • In early childhood mainly disturbed function of pancreas and digestion. The first symptom is often a late first bowel movement of the newborn (Kindspech, meconium) or even an intestinal obstruction by the Kindspech (so-called meconium ileus).
  • This is followed by respiratory and lung symptoms such as bronchial infections, chronic irritable cough with sputum, pneumonia and respiratory failure.
  • Nasal congestion, sinusitis, polyps.
  • Severely limited efficiency.
  • Fat stools, flatulence, diarrhea, abdominal pain, intestinal obstruction.
  • Failure of liver (liver cirrhosis) or pancreas (pancreatic insufficiency), diabetes mellitus (diabetes mellitus).
  • Prosperity and growth disorders, underweight, vitamin deficiency.
  • Salty taste of the skin due to increased electrolyte concentration in the body sweat.
  • Infertility due to sticky vas deferens in men; in women decreased fertility through viscous mucus in the cervix (cervix).
  • Watch glass nails and drumstick fingers due to lack of oxygen.

Causes

Cystic fibrosis is inherited by the parents when both carry the corresponding genetic defect. But that does not mean that the parents themselves have to be ill.

The genetic defect causes a metabolic disorder that causes reduced levels of salt and water in the glandular secretions of glands such as the pancreas or bronchi. This makes the mucus so viscous that it can not drain. In the congested secretion, pathogens multiply easily, causing inflammation. In addition, the mucus affects the function of important organs. For example, most people are quite familiar with respiratory distress due to blemished bronchi. In cystic fibrosis, this symptom is permanent and more pronounced.

Diagnosis

The first suspicion of the doctor usually quickly draws on the typical symptoms. In most cases, the disease is diagnosed when cystic fibrosis-affected children are weaned and switched to bottle feeding.

Due to the poorly secreted digestive enzymes from the pancreas and bile are often large amounts of foul-smelling and pulpy stools, which contain a high fat content. They are therefore referred to as fatty stools. In addition, the food is bad or completely undigested. The children are prone to flatulence. Frequently, the doctor detects intestinal invaginations or intestinal distortions, especially in infants and an episode of the intestinal mucosa (rectal prolapse).

To confirm the suspicion of cystic fibrosis, various diagnostic procedures are used:

  • Genetic testing, determination of trypsinogen in the blood, blood sugar determination.
  • Determination of the sodium-water budget, often the sodium and potassium concentrations in the blood are lowered.
  • The pilocarpine iontophoresis "sweat test" detects an increased salt content of the sweat.
  • If pancreatic failure is suspected (pancreatic insufficiency): Measure the concentration of pancreatic elastase in stool.

Treatment

Cystic fibrosis is still not curable, only the symptoms can be alleviated. For this, the medical treatment of cystic fibrosis includes various starting points. In addition to the medical treatment of cystic fibrosis, physiotherapy and cures are given special importance in specialized rehabilitation facilities in the mountains or by the sea.

Cystic fibrosis must be treated consistently and requires regular care in special outpatient clinics and internists / pulmonary specialists.

Drug therapy of cystic fibrosis

The drug therapy of the symptoms and sequelae of cystic fibrosis is very extensive. For example, the enzymes of the pancreas are being replaced by medication to ensure normal digestion. Antibiotics relieve recurrent inflammation.

Some doctors already use antibiotics as preventatives, others only in cases of acute inflammatory attacks. For the preventive administration of antibiotics is currently running a large study, which should prove the benefits.

Vitamins such as vitamin C, E and provitamin A are also useful in drug therapy. The loss of electrolytes during sweating should be compensated by a sufficient salt intake.

  • Commonly used antibiotics: aztreonam, cefalexin, ceftazidime, ciprofloxacin, colistimethate, imipenem, meropenem, moxifloxacin, piperacillin, tobramycin
  • Mucolytic agent: acetylcysteine ​​Dornase-alpha
  • Intestinal Specific Therapeutics: Pancreatic Powder, Macrogol, Ursodeoxycholic Acid, Saccharomyces cerevisiae
  • Respiratory therapeutics: budesonide, cromoglicin, fluticasone propionate, saline, salbutamol, salmeterol xinafoate, theophylline

Conservative therapy of cystic fibrosis

  • Physiotherapy, physiotherapy
  • Inhalation therapy
  • Autogenic drainage (also during inhalation)
  • Stretching exercises, so-called secret transport exercises
  • Self-help with cystic fibrosis

The self-help in cystic fibrosis is first and foremost to follow the therapy recommendations. Only the consistent adherence to the medication prescriptions and the incessant repetition of the respiratory or inhalation therapy measures create the possibility of surviving the disease as long as possible or alleviating the symptoms. As a general rule, it is advisable to have a body movement that is in line with the general condition and a diet rich in calories and proteins that - medically coordinated - can be supplemented with nutrient supplements and vitamin supplements from the pharmacy.

Forecast

The earlier the treatment is started, the better the prognosis and the higher the chances of survival. The general life expectancy of a person suffering from cystic fibrosis is estimated at about 30 years today. Younger patients born in the 1990s already have a life expectancy of 40 to 45 years due to early detection and increasingly modern treatments.

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