Cystic fibrosis – a chronic, hereditary and congenital disease Cystic fibrosis also commonly referred toas CF is a hereditary genetic condition, which is typically expressed in the lungs. The disease’sprognosis and development varies widely. What are the symptoms? • Bowel arrest in newborns (mekonium-ileus).
• Poor well-being – often in spite of good, not uncommonly exaggerated appetite.• Abnormal stools (frequent, large, greasy and smelly stools).• rectal occurrence• Salty skin• Biting, rusty breathing.• Persistent cough• Frequent cases of bronchitis and pneumonia. The above symptoms may also occur in other diseases, and a child with cystic fibrosis does not have to show all the symptoms. How is cystic fibrosis diagnosed?This is done by a sweat test where you measure the salt content of sweat, which is abnormally high in patients with cystic fibrosis. In addition, you are investigating the gene mutations that cause cystic fibrosis.
This is done by a blood test. What is the cause of cystic fibrosis?Cystic fibrosis is caused by a gene defect which, among other things, causes the salt transport into and out of the body’s cells to not function normally. This defect is mainly reflected in the exocrine glands, that is, those glands that produce secretions to the outer and inner surfaces.The internal organs that are particularly affected by the disease are the lungs, pancreas, gastrointestinal tract and liver. The skin is also affected due to the high salt concentration in the sweat secreted by the sweat glands.
The secretions of the mucus-producing glands contains less water in patients with cystic fibrosis than in healthy subjects. This causes the secretion to become cool and viscous.In the airways, the secretion thus becomes a breeding ground for germs and bacteria, causing frequent pulmonary infections.
In the digestive system, the hereditary defect in the gland function causes the pancreas to produce insufficient amounts of digestive enzymes and therefore the absorption of proteins and fats from the food is insufficient. Can the disease be healed?Currently there is only treatment that can dampen or eliminate the symptoms, but no healing treatment.However, there is always a great research effort into the healing of the disease. Primarily, a healthy gene is being introduced into the cells where the disease is especially expressed, primarily the cells in the lower respiratory tract.To lead healthy genes into diseased cells is also referred to as somatic gene therapy.
The first attempt to perform somatic gene therapy in patients with cystic fibrosis started in the United States in April 1993, but difficult problems are encountered, and it may take a long time before it becomes possible to use this new treatment method.Until proper treatment is possible, work continues to improve the treatment of the symptoms of the disease. In many contexts, cystic fibrosis is a model disease for the researchers, and thus interesting to research because a single basic defect is expressed in several organs at the same time. How do you treat cystic fibrosis? digestion:The pancreas, among other things, produces enzymes to break down and metabolize the diet. But the disease causes the enzymes not to enter the intestine. In order to ensure that the food is broken and absorbed, it is therefore necessary for patients with cystic fibrosis to ingest digestive enzymes with each meal. In addition, some patients have an increased calorie requirement and therefore should eat 50% more calories than what is otherwise recommended for a similar healthy person.
Respiratory system:The mucus is here breeding ground for bacteria. Patients with cystic fibrosis are examined every month during outpatient hospitalization and, in the event of evidence of initial respiratory infection, antibiotic targeting is performed against the type of infection found to prevent lung tissue from being destroyed by pneumonia.In addition, the individual family / patient must perform a demanding home treatment every day to bring out the coolness of the airways. This is done by repeatedly injecting, among other things, mucous solvents. In addition, pulmonary physiotherapy is used by means of a so-called PEP mask, through which an increased resistance is established in the exhalation air, which results in the tender mucus in the lower airways more easily brought up, thus coughing up.
The lung infections can often be treated at home, but for some patients with cystic fibrosis, regular hospitalization is required where antibiotic treatment is given through the blood vessels. This means that these patients spend 2 months a year in hospital in a lifelong treatment. However, some patients may receive this treatment at home so they can still attend school or work. How is the prognosis for patients with cystic fibrosis?Previously, very few patients with cystic fibrosis survived childhood , but intensive treatment based on sustained research has led to an increase in there life expectancy.
We are pleased that the average life expectancy since the 1980s has increased every year by 1 year. Many Danish patients are now adults. They are undergoing training or in business, have established a family and are active citizens, but with the constraints that a chronic illness, a repeated hospital check and necessary daily home treatment lead to. Where do you treat cystic fibrosis?In the 1960s, the treatment of cystic fibrosis was centralized in Denmark at the children’s hospital of Rigshospitalet. Due to the ever increasing number of patients, a Western Danish center for the treatment of cystic fibrosis was established in 1990 at the children’s department at Skejby Hospital.
At the two centers, approximately 98% of all Danish patients with cystic fibrosis – both children and adults are treated. Is cystic fibrosis a new disease?The disease has been known since the Middle Ages, and until the middle of the last century you would encounter the belief that children whose sweat had excessive amounts of salt were ill and would soon die. The medical world discovered in 1938 that cystic fibrosis is an independent disease.
Can you investigate healthy people if they carry a hereditary system for cystic fibrosis?The genes for cystic fibrosis were found in 1989. Therefore, healthy individuals can be tested using a DNA analysis. This is performed on a blood test and shows whether you carry an inheritance system for cystic fibrosis.