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Congenital Metabolic Disease: Early inhalation therapy helps with cystic fibrosis
Around 8,000 people in Germany suffer from cystic fibrosis. The congenital metabolic disease has not yet been curable. But especially children with cystic fibrosis can often be treated well. As a study has now shown, babies can benefit from preventive therapy from the first months of life.
Incurable multi-organ disease
Cystic fibrosis (cystic fibrosis) is a congenital metabolic disorder. In Germany alone, around 8,000 people suffer from the incurable disease, especially children and young adults. A characteristic of the multi-organ disease is a limited functionality of the mucus-forming glands in the body, which forms a very tough mucus. This clogs the airways, favors chronic infection and inflammation. Both destroy the lungs over time. Life expectancy is continuously increasing thanks to advanced therapies and an increasingly earlier diagnosis. Prevention therapy is also available for patients from the first months of life. Babies can benefit enormously from this treatment, as has now been shown in a study.
Disease can affect various organs
The course of the disease from cystic fibrosis is very different and can affect different organs. The severity of the disease can also vary enormously.
“Many sufferers suffer primarily from respiratory symptoms. Typical features are therefore a constant cough to get rid of the thick mucus, shortness of breath because the function of the lungs is impaired, as well as frequently recurring infections and pneumonia ”, explains the association Mukoviszidose e. V. Federal Association of Cystic Fibrosis (CF) on its website.
But the digestive system is also affected. “The tough mucus clogs the pancreas and liver. As a result, the digestive enzymes do not arrive in the intestine, ”said the experts.
Therefore, the food cannot be digested well and the result is abdominal pain, constipation, fatty stool, severe underweight and, in infants and young children, failure to thrive.
Delay lung damage and complications
As the Heidelberg University Hospital wrote in a statement, children with cystic fibrosis are impaired in their development due to the early onset of lung damage and a severely restricted digestion and can lag behind their peers in growth and weight with insufficient therapy.
Therefore, the earlier the treatment begins and the sooner the slight deterioration is adequately reacted to, the longer lung damage and complications can be delayed.
The prerequisite for this is that of Heidelberg scientists led by Professor Dr. Marcus Mall launched a newborn screening for cystic fibrosis that was introduced throughout Germany in 2015 and reliably identifies affected children.
For the first time, this early detection has opened a narrow time window for preventive therapeutic approaches.
A current study has shown the effectiveness of prevention therapy from the first months of life.
The results were published in the American Journal of Respiratory and Critical Care Medicine.
Babies benefit from inhalation therapy with hypertonic saline
The multicenter study at the German Center for Lung Research (DZL), led by the Center for Pediatric and Adolescent Medicine in Heidelberg, showed that babies with cystic fibrosis benefit from very early inhalation therapy with hypertonic saline.
Their lung function improves and they gain more weight over the course of a year than patients who inhale isotonic saline.
According to the information, this is the first completed controlled study on preventive therapy at this age worldwide, since only recently non-invasive methods for reliable detection of early lung damage have become available.
Given the results, preventive inhalation therapy with hypertonic saline can now be recommended for infants and young children with cystic fibrosis. The participating study centers have already changed their treatment accordingly.
Therapy starts before the first symptoms
"The study shows for the first time the benefits of preventive therapy that starts before the first symptoms in infancy," says Professor Dr. Marcus Mall, who led the study at Heidelberg University Hospital.
"In addition, we were also able to show in the study that the examination methods used - the measurement of lung ventilation and magnetic resonance imaging - are very suitable for checking therapeutic effects for children with little stress," said the scientist.
"The work thus paves the way for the development of further preventive therapies with the aim of preventing the development of severe lung damage in patients with cystic fibrosis, or at least significantly delaying it."
Moisturize mucus in the airways better
For the study, a total of 42 babies were randomly assigned to a therapy and a control group in the first three months of life, their lung ventilation, growth and weight gain were followed for a year.
The children in the therapy group inhaled hypertonic saline twice a day, the salinity of which is higher than that of the lung secretion and which helps to better moisturize the surface of the lungs and the mucus in the airways.
The babies in the control group inhaled an isotonic saline solution, which corresponds to the concentration of lung secretions.
The lung function of the children was determined by measuring the lung ventilation index (LCI). The number of breaths that are required until all the air in the lungs is exchanged is determined.
"This measurement shows very sensitively whether breathing air is trapped in the lungs because, for example, mucus plugs or inflammation restrict air circulation," explains first author Dr. Mirjam Stahl, children's lung specialist at the cystic fibrosis center and Center for Translational Lung Research (TLRC) at Heidelberg University Hospital.
Tough mucus in the small airways not only makes breathing difficult, but also leads to inflammation and changes in the lung tissue.
In addition, MRI examinations of the lungs were carried out in all children in order to detect such changes and inflammation foci.
Simple and well-tolerated measure
After one year, the ventilation in the babies in the therapy group developed significantly better than in the comparison group, they were on average 500 grams heavier and 1.5 centimeters larger.
The study doctors see the reason for the good weight development in the overall better health of the children. At this early stage in the MRI findings, there were only slight differences between the two groups.
“This inhalation therapy is recommended as a simple and well-tolerated measure to alleviate or delay early lung changes in cystic fibrosis. It provides the affected children with significantly improved starting conditions for life, ”concludes Dr. Steel.
All children will be cared for in the follow-up study, which is also coordinated from Heidelberg. Doctors want to clarify how preventive therapy affects the further course of the disease. (ad)