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MRI technique is suitable for detecting progression of cystic fibrosis in preschool children & benefits of newborn screening

News 2021-351 EN

Regular examination of the lungs using magnetic resonance imaging (MRI) can detect how lung disease develops in children with cystic fibrosis. In addition, if the disease is detected and treated before symptoms appear as part of newborn screening (NGS), it may progress more mildly. This is what scientists at the German Center for Lung Research (DZL) found in a four-year study that followed preschool children.

"The MRI examinations showed that changes in the lungs already increase over the first four years of life, for example, the bronchial walls thicken, and certain areas of the lungs become insufficiently ventilated over time because the airways are blocked with mucus," says private lecturer Dr. Mirjam Stahl, a DZL researcher at Charité - Universitätsmedizin Berlin. She examined nearly 100 children aged up to four years with MRI once a year in her study. All of the children had cystic fibrosis, which had been identified either by newborn screening or based on clinical symptoms typical of cystic fibrosis. Cystic fibrosis is a congenital multi-organ disease in which a salt transport disorder produces viscous secretions that gradually impair many organs' function. Defects in a gene that contains the building instructions for the CFTR chloride channel are responsible for the disease. The disease cannot be cured. One way of treating the symptoms is for the children to inhale bronchodilators and expectorants.

Starting therapy in the symptom-free stage brings advantages

The study also found that changes in children's lungs were not as pronounced if their disease was detected through newborn screening and the treatment was started before the first symptoms appeared. "Starting therapy early in the asymptomatic stage keeps the disease at a lower level but cannot stop its progression," Stahl said. She hopes that a new group of drugs that directly target the defective chloride channel, known as CFTR modulators, could have an even more significant effect and possibly slow down the progression of the disease. Such questions would have to be investigated in clinical studies in the future.

Uniform guidelines are lacking

Since 2016, newborn screening has examined whether cystic fibrosis is present. First, the babies' blood is analyzed. If specific values are conspicuous, a sweat test is performed to confirm the diagnosis. Doctors may use lung function tests or imaging techniques such as X-rays of the lungs, MRI, or computed tomography (CT) to assess whether the lungs are already affected. MRI and CT have better spatial resolution than X-rays and therefore reveal more details. MRI offers an advantage over CT in that it is radiation-free. However, which procedure is used depends on the clinic, as there are no uniform guidelines for this to date.

At Heidelberg University Hospital, where the study was conducted under the direction of Stahl and Professor Marcus Mall, MRI has been used since 2008 on newborns and infants to detect whether and to what extent the lungs are affected by diagnosed cystic fibrosis. The two scientists also recommend that children with the disease undergo MRI once a year. "Especially when the disease is still at a mild level, many parents wonder whether the annual MRI examination is even necessary. But our study proves that MRI allows us to assess very precisely, and radiation-free to boot, how the condition of the lungs has developed so that we can adjust treatment in good time," Stahl says.

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Original publication: Magnetic Resonance Imaging Detects Progression of Lung Disease and Impact of Newborn Screening in Preschool Children with Cystic Fibrosis