Experts call for baby cystic fibrosis screening

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Newborn screening for cystic fibrosis could improve quality of life

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

If nationwide newborn screening for cystic fibrosis were introduced, the incurable and genetically determined metabolic disease cystic fibrosis (cystic fibrosis / CF) could be treated in good time, as Prof. Dr. Manfred Ballmann from the University Children's Clinic in Bochum explained. The affected children could benefit from "higher life expectancy and better quality of life". Ballmann is a member of the cystic fibrosis research network of three clinics in the Ruhr area, in which more than 300 CF patients are treated. "Unfortunately, the disease in Germany is often recognized much too late, although there are very good diagnostic options," said Ballmann during a conference on Saturday at the Bochum University Hospital.

Cystic fibrosis is a potentially fatal disease. Cystic fibrosis is the most common genetic disease in Germany that is potentially fatal. Every year, around 200 to 300 children are born in Germany who suffer from CF. Although there are already very good therapeutic options today, the average patient's life is no longer than 40 years. Experts estimate that around 4 million people in Germany are inheritors of this disease. The metabolic disorder causes a very tough mucus to be produced in numerous organs. Most often, the lungs and pancreas are affected. It is not uncommon for the genetic defect to affect the liver or the gallbladder.

Timely diagnosis could improve life expectancy The symptoms are often mistaken for asthma, whooping cough, bronchitis or gluten intolerance, since the external symptoms are very similar to CF. According to this, there is an unreported figure of around 50 percent of patients who do not yet know about their illness. The cause is a genetic defect that is transmitted from the parents to the child. Despite intensive research efforts, the disease is still not curable, only the symptoms can be alleviated. The earlier the cystic fibrosis is diagnosed, the better the symptoms are relieved. Therefore, timely screening shortly after birth is of great importance for the patient's later quality of life.

In order to carry out a corresponding test, it would not even be necessary to take additional blood. "The diagnosis could be made from the blood sample, which is taken immediately after birth for further screenings," Ballmann explained.

The federal association of regional self-help groups said that around 8,000 children, adolescents and adults in Germany suffer from the incurable disease. The first typical signs of cystic fibrosis are persistent cough, digestive disorders and visible underweight. In addition to a variety of medicines, the therapy includes a high-calorie and vitamin-rich diet, physiotherapy, sport and inhalations. Some elements of yoga have already been able to help you to cope with the symptoms.

The University Children's Clinic Bochum / Essen with its special CFTR center is one of the largest study outpatients in Germany where new treatment options are being examined in studies. (sb)

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Picture: Christian v.R. /

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Video: Raising a Child with Cystic Fibrosis

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