Experts call for cystic fibrosis screening of babies

Newborn screening for cystic fibrosis could improve quality of life

07/02/2012

Physicians call for compulsory examination of newborns for the metabolic disease cystic fibrosis. If the disease is detected early, the life expectancy and quality of life of those affected could be significantly improved.

If a nationwide newborn screening for cystic fibrosis were introduced, the incurable and genetically caused metabolic disease cystic fibrosis (CF) could be treated in time, as Prof. Dr. med. Manfred Ballmann from the University Children's Hospital in Bochum explained. The affected children could be from one „higher life expectancy and better quality of life“ benefit. Ballmann is part of the Cystic Fibrosis Research Network of three clinics in the Ruhr area, which treat more than 300 CF patients. „Unfortunately, the disease in Germany is often recognized too late, although very good diagnostic options exist“, said Ballmann during a symposium on Saturday in the University Hospital Bochum.

Cystic fibrosis a potentially deadly ending disease
Cystic fibrosis is the most common genetic disease in Germany, potentially fatal. Every year around 200 to 300 children in Germany suffer from CF. Although very good treatment options already exist today, on average patients do not live longer than 40 years. Experts estimate that around 4 million people in Germany are inheritors of this disease. The metabolic disorder causes that in many organs a very tough mucus is produced. Mostly the lungs and the pancreas are affected. Not infrequently, the genetic defect also pollutes the liver or gallbladder.

Timely diagnosis could improve life expectancy
Many times the symptoms are confused with asthma, whooping cough, bronchitis or a gluten intolerance, since the external symptoms of CF are very similar. Accordingly, there is a dark figure of about 50 percent of patients who do not yet know about their disease. The cause is a genetic defect that is transmitted from the parent to the child. Despite intensive research efforts, the disease is still not curable, only the symptoms can be alleviated. The relief of the symptoms succeeds the better, the sooner cystic fibrosis is detected. Therefore, a timely screening shortly after birth is of great importance for the patient's later quality of life.

In order to perform a corresponding test, not even an additional blood sampling would have to be done. „The diagnosis could be made via the blood sample, which will anyway be taken immediately after birth for further screenings“, Ballman explained.

The Federal Association of regional self-help groups explained that in Germany around 8,000 children, adolescents and adults suffer from the incurable disease. First typical signs of cystic fibrosis are persistent cough, digestive tract disorders and visible underweight. In addition to a variety of medicines, the therapy includes a high-calorie and vitamin-rich diet, physiotherapy, sports and inhalations. Also, some elements of yoga have already been able to contribute good help in dealing with the symptoms.

The University Children's Hospital Bochum / Essen with its special CFTR center is one of the largest study outpatient clinics in Germany, where new treatment options are checked in studies. (Sb)

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Picture: Christian v. R.