Tough mucus due to genetic defect - children with cystic fibrosis can be treated

Tough mucus due to genetic defect - children with cystic fibrosis can be treated / Health News
Incurable disease - children with cystic fibrosis can be treated
In Germany, about 200 children are born each year with the metabolic disease cystic fibrosis. Curable is the disease in which the body produces viscous mucus through a genetic defect, so far not. But now it is treatable.

Incurable metabolic disease can be treated
All parents wish to hear the phrase "your baby is healthy" after the birth of their child. But not always this is the case. Every year around 200 children are born in Germany with the metabolic disease. In total, around 8,000 people in this country suffer from this incurable disease. In affected individuals, the ability of the mucus-forming glands in the body to function is restricted, resulting in a very viscous mucus that affects the lung function as well as the digestive organs.

Proper coughing is very important. Image: Ilike - fotolia

The course of the disease is very different and the severity of the disease can vary enormously. People all over the world became aware of the rare condition when it was reported that a 22-year old cystic fibrosis patient had been removed from the organ donor list. The young Briton explained her step by saying that she still had time to enjoy her life. Doctors estimated that she had about a year left to live. As the treatment options are better the sooner the disease is detected, my experts say a cystic fibrosis screening is necessary for babies. Using the example of the two-year Nalu, the news agency dpa shows how children can best be helped.

Body produces tough mucus
The baby boy's mother had complications two months before the delivery date. Her husband said, "We drove to the hospital, the doctors were very nervous, so did we. The contractions started, and our son was brought by caesarean section. "The boy was born with purple-blue-colored skin, swollen abdomen and twisted intestine, which had to be surgically removed. Then the baby got an artificial diet via a nasogastric tube, but it did not put on weight anyway. According to various studies, the neonate was diagnosed with the metabolic disease cystic fibrosis, which is often referred to as "cystic fibrosis" (CF).

The term goes back to the Latin words mucus (mucus) and viscidus (tough), because characteristic of the disease is a tough mucus, which is formed due to a genetic defect in many organs of the body. As a result, sufferers suffer from, among other things, chronic cough, frequent pneumonia and underweight.

Both parents must be carriers of gene expression "The produced by a genetic defect tough mucus clogged and especially harms the lungs," said the Hamburg children's pneumologist Christoph Runge told the news agency. But other organs such as the pancreas are affected by the secretion clogs the ducts of the gland and obstructs a sufficient formation of digestive enzymes (exocrine pancreatic insufficiency). As a result, sufferers suffer from other complaints such as flatulence, diarrhea, abdominal pain or fat, as well as it can come in neonates to an intestinal obstruction.

Symptoms can already occur during childhood. Every year more than 200 children suffering from cystic fibrosis are born to the Federal Ministry of Education and Research throughout Germany. Cystic fibrosis is an autosomal recessive hereditary disease, which means that a child only becomes ill if both parents are carriers of the defective allele. The hereditary disease is not curable so far. But if the diagnosis is made early, appropriate treatment for the small patients can lead to an improved quality of life and increased life expectancy.

Medication, inhalation and physiotherapy firmly integrated in everyday life "We do with Nalu a daily therapy, which is very time-consuming," says the father of little Nalu, Marc Kamps in conversation with the dpa. These include, for example, a three times daily inhalation for 20 minutes each to loosen up the viscous mucus and the intake of vitamin preparations and enzymes for fat digestion. In addition, there are regular visits to the doctor, where the susceptible airways are examined by means of a smear for dangerous pathogens. Another component of the treatment is the one to two-week physiotherapy, which is complemented by exercises at home. The costs are covered by the health insurance.

"We show parents, for example, how to inhale at home with their child," says physiotherapist Stefanie Ollig. If the affected children are already older, breathing techniques would also be mediated, because "the mucus will be breathed as far up as possible in order to then be able to cough it off effortlessly," the expert continues.

Despite good therapy success, the disease continues to be a threat. Nalus father looks confidently into the future. "It's nice to see that people with cystic fibrosis are over 50 today," says the 36-year-old from Hamburg. Accordingly, it is important for the well-being of his child, that this takes the tablets and inhale. But even with consistent adherence to the treatment plan, "cystic fibrosis continues to be a threatening disease," explains Christoph Runge. The boy could already experience this firsthand. In one of the regular check-ups, the so-called "MRSA bacteria" were detected, which are particularly dangerous in cystic fibrosis patients and can cause, for example, blood poisoning. "You go carefree to the smear, and then the world collapses," says Kamps. The situation was also very difficult for Nalus' older sister, because she had to "already understand more about her brother's illness than she should at six".

In order to provide children with information and better access to the disease, he is now working on developing an app together with the children's pneumologist Frank Ahrens from the Altona Children's Hospital and the Association for Cystic Fibrosis. This should be available from 2016 and revolve around the protagonist "Patchie", which should promote as an alien with cystic fibrosis understanding and responsibility. (no, ad)