The questions of Medikforum.ruotvechaet Nikolai Kapranov Professor, MD, Head of the NGO cystic fibrosis MGNTS RAMS, director of the Russian Center for Cystic Fibrosis.
How the disease is inherited? Gene "defective" there should be only one parent or both? And whether their grandchildren inherit cystic fibrosis?
Cystic fibrosis is inherited in an autosomal retsesivnomu type. This suggests that an abnormal gene is present in both parents. It's difficult to suspect on the basis of appearance or behavior, because our parents physically look very good, they're smart and erudite, and often, more often from fathers heard saying: "This is your fault, I have everything in order." In fact, this is misleading, since it is always to blame for both partners.
Grandchildren can inherit an abnormal gene, and can be born sick, if the children will inherit at least one mutation and meet the same carrier of the abnormal gene.
Does the emergence of diseases Smoking, alcohol, harmful factors at work, a bad environment?
On the occurrence of the disease is not influenced by these factors, but clearly can aggravate its course. Since 90-95% of CF patients is determined by the course and outcome of broncho-pulmonary changes, then, as with any disease, relating to the lung, and the environment, and smoking, including passive and harmful factors at work negatively affect the course of the disease .
There are several forms of cystic fibrosis: lung, intestinal and mixed. Which of these forms the most severe?
It is worth noting that overseas various forms of cystic fibrosis, as in Russia, is not isolated. They give a general diagnosis of the patient - cystic fibrosis, further describe the various manifestations of the disease. In Russia, it was decided, and I think it is more correct selection of various forms of cystic fibrosis. A mixed, she pulmonary intestinal form, is seen in 85-90% of patients. Pulmonary - 10-15%, and E. - 5%. But often the so-called respiratory and intestinal forms over time acquire a mixed form, which is the most severe.
What other system except for the lungs and gastrointestinal tract, affects this pathology?
The main problems of patients with cystic fibrosis - a lung disease, gastrointestinal and hepatobiliary system, so we try as much as possible to maintain such patients a good nutritional status. This makes it possible to increase the protection of non-specific, and even an exacerbation of the disease the patient can more easily cope with it if it works well the gastrointestinal tract.
This pathology also affects the exocrine function of the pancreas. With the passage of time because of fibrosis, i.e. "Wrinkling" of pancreatic tissue, patients with cystic fibrosis may develop diabetes.
In addition, affected reproductive system. Women impair fertility function, and the majority of men with cystic fibrosis are infertile due to azoospermia associated with the absence or gradual imperforate ejaculatory duct.
Physician specialty treat cystic fibrosis?
Abroad, it is usually a pediatrician general. Such patients are examined at regional centers, and at the discretion of the attending physician periodically for their care and treatment gather experts of different profiles. We have these patients tend to lead pulmonologists, at least - gastroenterologists, even less - just pediatricians, and very rarely - genetics.
How can I find out that the baby is sick? Is it always appears suddenly?
Sometimes the sudden onset of the disease, in particular pseudo-Bartter syndrome. But most of all the same disease develops gradually, the child begins to cough, cough cure, but to no avail. But now, with the introduction in our country mass screening for cystic fibrosis, among others, five diseases, patients can be diagnosed cystic fibrosis in the first half or two months of life. Now these tests are mandatory for everybody newborn. The introduction of mass screening for cystic fibrosis has greatly facilitated early diagnosis.
About newborn screening here. - MF
This is very important because it allows you to assign a timely adequate and modern treatment that can greatly prevent the development of irreversible changes in the lung that the vast majority of patients determines an unfavorable outcome.
What is the assessment and treatment is in the arsenal of modern medicine?
- Diagnosis of cystic fibrosis varies depending on the country. In the West, screening algorithm is very simple: in the case of a first positive test for immuno-reactive trypsin, a patient sent for DNA testing. In our country, for the definitive diagnosis is conducted further examination - repeated test of immuno-reactive trypsin at the end of the first month of life. If it is positive, then the patient undergoes further sweat test. And then, in the case of a positive reaction, the patient can already diagnose cystic fibrosis with absolute certainty. If the numbers are borderline sweat test or negative, then, on the recommendation of the WHO, the patient should at least be observed throughout the year from the experts and go through a second sweat test, which is sometimes positive.
Tests for cystic fibrosis before conception, I would advise couples to do so, in a family that is exactly confirmed case of patients with cystic fibrosis, as these tests are expensive. Now, such an examination can go in many regions of Russia. In addition, starting from 10-13 weeks of pregnancy a woman can To make the prenatal test, and if positive, the decision to continue the pregnancy or the direction of the medical abortion is given at the mercy of the family.
For the treatment of cystic fibrosis apply a range of modern drugs: genetic engineering mucolytics, substitution of pancreatic enzymes, antibiotics. It is of great importance hepatotropic drugs, drugs of ursodeoxycholic acid. In addition to the drugs and patients appointed by the vitamins, particularly fat-soluble vitamins A, E, D, and K. An important element of maintaining vitality in patients with cystic fibrosis is a therapeutic exercise.
What can help a special massage and physiotherapy?
Kinesitherapy - a set of special massage and physiotherapy, a highly efficient and important addition to the medical treatment of cystic fibrosis patients. In the application of all the drugs that I mentioned earlier, and particularly conducive to liquefaction of sputum, physiotherapy is very important. If not hold kinesitherapy, i.e. purification of the bronchial tree, the disease descend below that lead to complications.
Kinesitherapy - and a very important element of the treatment process, and prevention. Usually we teach parents techniques kinesitherapy, so they could take her children home. And within the framework of follow-up activities, includes a visit to the doctor every three months, an expert monitors the implementation of this procedure and, if necessary, make adjustments.
When mothers kiss sick kids, they note salty skin. Why is this happening and what threatens the kid?
This is a very interesting observation, which first drew attention to the United States in 1953, when, during the hot summer my mother brought to the reception is very debilitated children, noting that they were on his forehead salt crystals. The examination revealed that these children 2-5 times exceeded the content is said to be conditional, "salt" in the pot, this is due to the increased loss of sodium and chloride in sweat, which can cause the collapse of the flame. Therefore, the "gold standard" in vivo diagnosis of cystic fibrosis was the sweat test, which is incorporated into the scheme of screening in our country.
Advances enormous, especially in the field of genetics of the disease. When in 1989 was discovered the gene for cystic fibrosis, from geneticists and clinicians came euphoria, because it seemed that soon it will be possible to start gene therapy of the disease, inventing fabulous tablet. Unfortunately, it turned out to be more complicated. With the introduction of the gene construct into the airway in the body begins to develop dose-related inflammatory and immunological reactions. Currently being sought new methods of gene therapy.
Current treatments in combination provide a very good results, including in Russia. If patients die before the age of 5 years, with the gradual introduction of antibiotics life expectancy of patients with cystic fibrosis has increased to 10-12 years. 20 years it has achieved with the introduction of mucolytics, using the methods of kinesitherapy and the organization of special centers for cystic fibrosis. Up to 80-ies in Russia life expectancy does not exceed 15 years. Now, at least, in Moscow, we have reached the level of developed countries - the UK, France, Australia - 38, 5 years. In other words, a child born today with CF disease in developed countries can be guaranteed from 40 to 60 years of life.
Is it possible to achieve long-term remission?
Yes, you can. All of the above methods can achieve remission.
What are the limits for patients with cystic fibrosis? Can they play sports, sing and dance? Abroad are several singers, patients with cystic fibrosis. This was possible only because of their strength or the will is the merit of medical advances?
We just advocate for active sports among our patients. But there are certain sports in which you can easily get injured, such as boxing, weightlifting, they are not recommended.
There are examples of famous people with cystic fibrosis. For example, Toler Cranston, a former world champion in figure skating, ill with cystic fibrosis. Hitchcock's granddaughter, cystic fibrosis, created his foundation and made a great contribution to the discovery of the cystic fibrosis gene.
One of our patients took first place in Moscow on the big tennis. In general, patients who are actively involved in sports, feel much better, and emotionally, and physically. Another example of our patient - a boy, a professional dancer, was a member of a professional group Zapashny brothers. Now he created his own band, and he was invited to perform in the United States.
Indeed, there are examples of foreign singers, who were able to make significant progress. They develop their lungs with the aid of modern kinesitherapy, moreover, known to singing enhances bronchi. If kinesitherapy carried out 2 times a day, the patients during the day may not experience bouts of coughing.
Where can you go to people in the family who have such a patient? There are some specialized clinics, departments?
First of all, the Russian Center for Cystic fibrosis, which serves as the federal government, now we have seen more than 2200 patients. Address the Moscow branch - Zoological street, 15. The hospital is located on Leninsky Prospekt in our hospital, Department of Medical Genetics. As Russia is open and has about 50 centers for children and about 10 centers for the diagnosis and treatment of adults.
Questions were asked Oksana Herasymenko
Treatment and prevention
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