The diagnosis of “meconium ileus” (bowel obstruction) in newborns is also an indication of CF. Some children show changes in their livers as early as during the infant stage.
In the long term, additional CF symptoms may develop, such as diabetes or osteoporosis. However, the symptoms can also have various degrees of severity from patient to patient.
How does this disease originate?
The genetic misinformation is on the long arm of both chromosomes 7, which causes the malformation of an important protein molecule that is responsible for the salt and water metabolism in many organs (CFTR protein). Of the currently known mutations (about 2000), many can be divided into classes according to the type of functional error in the CFTR protein (class I-VI).
The reduced salt and water concentration on the mucous membrane surfaces leads to the known formation of viscous liquid and secretions. This occurs in the bronchi, the passages of the pancreas and the bile ducts of the liver and can lead to an increasing destruction of these organs. In the lung, the viscous secretion is a breeding ground for pathogenic agents, such as bacteria, viruses or fungi.
It is often the case that the patients’ statistical life expectancy is named in numbers that shouldn’t be accepted indiscriminately. For doctors and researchers, statistics are an important dimension to check whether they are on the right path with the support and treatment of the affected persons. For that reason most European countries enter the data for CF patients in a register in an anonymous form. In the European register of the ECFS (European Cystic Fibrosis Society), the average lifespan of 40 years is shown in all of Europe for 2015, while countries with a mid-level or high social standard indicate a lifespan of 53 years. But this statistical number does not have great significance for individual children.
Inhalation – respiratory physiotherapy
To clean the lung, an inhalation therapy followed by physiotherapy is completed twice a day no matter what – this is an important component in the treatment of cystic fibrosis. This refers to the application of different, individually adjusted techniques, which help remove the pathologically altered mucous and the bacteria breeding in it from the airways. It attempts to ensure a gas replacement in the lungs that is as interference-free as possible and minimizes the amount of bacteria in the lung. Additionally, these techniques help maintain or improve the function of the respiratory organs and pulmonary function. The physiotherapy is not just restricted to the treatment of acute lung changes but also sees itself playing a role in prevention.
The affected persons should receive optimal support during their therapies. At a time in which resources are shrinking, in terms of the human resources of the health care system as well as approval of the very expensive medication, a strong self-help group is indispensable. A close co-operation with the centers is also very desirable.
The further development of modulator therapy for all mutations is a source of great hope for the coming years, as is gene therapy, which also shows great results in the pre-clinical area. To ultimately really cure this illness, additional and intensive research and its support are absolutely mandatory.
Dr. Sabine Renner
CF Center Children’s Hospital, Vienna