The most common genetic diseases and their diagnosis in foster children. Human hereditary diseases

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All genetic diseases, of which several thousand are known today, are caused by anomalies in the genetic material (DNA) of a person.

Genetic diseases can be associated with a mutation of one or more genes, misalignment, absence or duplication of entire chromosomes (chromosomal diseases), as well as maternally transmitted mutations in the genetic material of mitochondria (mitochondrial diseases).

More than 4,000 diseases associated with single gene disorders have been described.

A little about genetic diseases

It is also known that some genetic diseases arose in us as an attempt by the body to resist the environment. Sickle cell anemia, according to modern data, originated in Africa, where malaria has been a real scourge of mankind for many thousands of years. In sickle cell anemia, humans have a red blood cell mutation that makes the host resistant to Plasmodium malaria.

Today, scientists have developed tests for hundreds of genetic diseases. We can test for cystic fibrosis, Down syndrome, fragile X syndrome, hereditary thrombophilias, Bloom syndrome, Canavan disease, Fanconi anemia, familial dysautonomia, Gaucher disease, Niemann-Pick disease, Klinefelter syndrome, thalassemias and many other diseases.

Cystic fibrosis.

Down Syndrome.

Fragile X syndrome.

Hereditary bleeding disorders.

Among the known diseases is thrombophilia associated with the Leiden mutation (factor V Leiden). There are other genetic coagulation disorders, including prothrombin (factor II) deficiency, protein C deficiency, protein S deficiency, antithrombin III deficiency, and others.

Everyone has heard of hemophilia - a hereditary coagulation disorder in which dangerous hemorrhages occur in the internal organs, muscles, joints, abnormal menstrual bleeding is observed, and any minor injury can lead to irreparable consequences due to the body's inability to stop the bleeding. The most common is hemophilia A (deficiency of clotting factor VIII); hemophilia B (factor IX deficiency) and hemophilia C (factor XI deficiency) are also known.

There is also the very common von Willebrand disease, in which spontaneous bleeding is observed due to a reduced level of factor VIII. The disease was described in 1926 by the Finnish pediatrician von Willebrand. American researchers believe that 1% of the world's population suffers from it, but in most of them the genetic defect does not cause serious symptoms (for example, women can only have heavy menstruation). Clinically significant cases, in their opinion, are observed in 1 person per 10,000, that is, 0.01%.

Familial hypercholesterolemia.

Huntington's disease.

Modern treatment is aimed at combating the symptoms of the disease. Huntington's disease usually begins to manifest itself in 30-40 years, and before that a person may not guess about his fate. Less commonly, the disease begins to progress in childhood. This is an autosomal dominant disease - if one parent has the defective gene, then the child has a 50% chance of getting it.

Duchenne muscular dystrophy.

Becker muscular dystrophy.

Sickle cell anemia.

Treatment includes pain medications, folic acid to support hematopoiesis, blood transfusions, dialysis, and hydroxyurea to reduce the frequency of episodes. Sickle cell anemia occurs predominantly in people of African and Mediterranean ancestry, as well as in South and Central Americans.

Thalassemia.

Phenylketonuria.

Alpha-1 antitrypsin deficiency.

In addition to those listed above, there are a huge number of other genetic diseases. To date, there are no radical treatments for them, but gene therapy has huge potential. Many diseases, especially with timely diagnosis, can be successfully controlled, and patients get the opportunity to live a full, productive life.

Each of us, thinking about a child, dreams of having only a healthy and ultimately happy son or daughter. Sometimes our dreams are wrecked, and a child is born seriously ill, but this does not mean at all that this own, native, blood (scientifically: biological) child will be less loved and less dear in most cases.

Of course, at the birth of a sick child, there are immeasurably more worries, material costs, physical and moral burdens than at the birth of a healthy one. Some condemn the mother and / or father who refused to raise a sick child. But, as the Gospel tells us: "Judge not, and you will not be judged." A child is abandoned for a variety of reasons, both on the part of the mother and / or father (social, material, age, etc.), and the child (severity of the disease, possibilities and prospects for treatment, etc.). The so-called abandoned children can be both sick and practically healthy people, regardless of age: both newborns and infants, and older ones.

For various reasons, the spouses decide to take a child into the family from an orphanage or immediately from a maternity hospital. Less often, this, from our point of view, humane civil act is performed by single women. It happens that disabled children leave the orphanage and their named parents deliberately take into the family a child with Down's disease or with cerebral palsy and other diseases.

The objective of this work is to highlight the clinical and genetic features of the most common hereditary diseases that manifest themselves in a child immediately after birth and at the same time, based on the clinical picture of the disease, a diagnosis can be made, or during subsequent years of the child's life, when the pathology is diagnosed depending on time. the appearance of the first symptoms specific to this disease. Some diseases can be detected in a child even before the onset of clinical symptoms with the help of a number of laboratory biochemical, cytogenetic and molecular genetic studies.

The probability of having a child with a congenital or hereditary pathology, the so-called population or general statistical risk, equal to 3-5%, haunts every pregnant woman. In some cases, it is possible to predict the birth of a child with a particular disease and diagnose the pathology already in the period of intrauterine development of the child. Some congenital malformations and diseases are established in the fetus using laboratory biochemical, cytogenetic and molecular genetic methods, more precisely, a set of prenatal (prenatal) diagnostic methods.

We are convinced that all children offered for adoption/adoption should be examined in the most detailed manner by all medical specialists in order to exclude the relevant profile pathology, including examination and examination by a geneticist. In this case, all known data about the child and his parents must be taken into account.

There are 46 chromosomes in the nucleus of every cell in the human body, i.e. 23 pairs that contain all hereditary information. A person receives 23 chromosomes from a mother with an egg and 23 from a father with a sperm. When these two sex cells merge, the result that we see in the mirror and around us is obtained. The study of chromosomes is carried out by a cytogenetic specialist. For this purpose, blood cells called lymphocytes are used, which are specially processed. A set of chromosomes, distributed by a specialist in pairs and by serial number - the first pair, etc., is called a karyotype. We repeat, in the nucleus of each cell there are 46 chromosomes or 23 pairs. The last pair of chromosomes is responsible for the sex of a person. In girls, these are the XX chromosomes, one of them is received from the mother, the other from the father. Boys have XY sex chromosomes. The first is from the mother and the second from the father. Half of the spermatozoa contain an X chromosome and the other half a Y chromosome.

There is a group of diseases caused by a change in the set of chromosomes. The most frequent of these is Down's disease(one in 700 newborns). The diagnosis of this disease in a child should be made by a neonatologist in the first 5-7 days of the newborn's stay in the maternity hospital and confirmed by examining the child's karyotype. In Down's disease, the karyotype is 47 chromosomes, the third chromosome is in the 21st pair. Girls and boys suffer from this chromosomal pathology in the same way.

Only girls can Shereshevsky-Turner disease. The first signs of pathology are most often noticeable at the age of 10-12, when the girl has a small stature, low-set hair at the back of her head, and at 13-14 years there are no signs of menstruation. There is a slight lag in mental development. The leading symptom in adult patients with Shereshevsky-Turner disease is infertility. The karyotype of such a patient is 45 chromosomes. One X chromosome is missing. The frequency of the disease is 1 per 3,000 girls and among girls 130-145 cm tall - 73 per 1000.

Only seen in males Klinefelter's disease, the diagnosis of which is most often established at the age of 16-18. The patient has a high growth (190 cm and above), often a slight lag in mental development, long arms disproportionately tall, covering the chest when it is girthed. In the study of the karyotype, 47 chromosomes are observed - 47, XXY. In adult patients with Kleinfelter's disease, the leading symptom is infertility. The prevalence of the disease is 1:18,000 healthy men, 1:95 mentally retarded boys, and one in 9 infertile men.

We have described the most common chromosomal diseases above. More than 5,000 diseases of a hereditary nature are classified as monogenic, in which there is a change, a mutation, in any of the 30,000 genes found in the nucleus of a human cell. The work of certain genes contributes to the synthesis (formation) of the protein or proteins corresponding to this gene, which are responsible for the functioning of cells, organs and body systems. Violation (mutation) of a gene leads to a violation of protein synthesis and further a violation of the physiological function of cells, organs and systems of the body, in the activity of which this protein is involved. Let's take a look at the most common of these diseases.

All children under the age of 2-3 months should certainly undergo a special biochemical study of urine to exclude them from phenylketonuria or pyruvic oligophrenia. With this hereditary disease, the patient's parents are healthy people, but each of them is a carrier of exactly the same pathological gene (the so-called recessive gene) and with a risk of 25% they may have a sick child. Most often, such cases occur in related marriages. Phenylketonuria is one of the most common hereditary diseases. The frequency of this pathology is 1:10,000 newborns. The essence of phenylketonuria is that the amino acid phenylalanine is not absorbed by the body and its toxic concentrations adversely affect the functional activity of the brain and a number of organs and systems. Lagging mental and motor development, epileptiform-like seizures, dyspeptic manifestations (disorders of the gastrointestinal tract) and dermatitis (skin lesions) are the main clinical manifestations of this disease. Treatment consists mainly in a special diet and the use of amino acid mixtures devoid of the amino acid phenylalanine.

Children under 1-1.5 years old are recommended to be diagnosed for the detection of a severe hereditary disease - cystic fibrosis. With this pathology, damage to the respiratory system and the gastrointestinal tract is observed. The patient has symptoms of chronic inflammation of the lungs and bronchi in combination with dyspeptic manifestations (diarrhea, followed by constipation, nausea, etc.). The frequency of this disease is 1:2500. Treatment consists in the use of enzyme preparations that support the functional activity of the pancreas, stomach and intestines, as well as the appointment of anti-inflammatory drugs.

More often, only after a year of life, clinical manifestations of a common and well-known disease are observed - hemophilia. Boys mostly suffer from this pathology. The mothers of these sick children are carriers of the mutation. Alas, sometimes nothing is written about the mother and her relatives in the child's medical record. Violation of blood clotting, observed in hemophilia, often leads to severe joint damage (hemorrhagic arthritis) and other lesions of the body, with any cuts, prolonged bleeding is observed, which can be fatal for a person.

At 4-5 years of age and only boys show clinical signs Duchenne myodystrophy. As with hemophilia, the mother is a carrier of the mutation, i. "conductor" or transmitter. The skeletal striated muscles, more simply, the muscles of the lower legs, and over the years, of all other parts of the body, are replaced by connective tissue that is incapable of contraction. The patient is waiting for complete immobility and death, more often in the second decade of life. To date, an effective therapy for Duchenne myodystrophy has not been developed, although many laboratories in the world, including ours, are conducting research on the use of genetic engineering methods in this pathology. Impressive results have already been obtained in the experiment, allowing one to look with optimism into the future of such patients.

We have indicated the most common hereditary diseases that are detected using molecular diagnostic techniques even before the onset of clinical symptoms. We believe that the study of the karyotype, as well as the examination of the child to exclude common mutations, should be carried out by the institutions where the child is located. In the medical data about the child, along with his blood type and Rh affiliation, karyotype and molecular genetic studies should be indicated that characterize the child's current health status and the likelihood of the most frequent hereditary diseases in the future.

The proposed surveys will certainly contribute to solving many global problems, both for the child and for people who want to take this child into their family.

V.G. Vakharlovsky - medical geneticist, pediatric neuropathologist of the highest category, candidate of medical sciences. Doctor of the genetic laboratory for prenatal diagnosis of hereditary and congenital diseases BEFORE. Ott — for more than 30 years he has been engaged in medical genetic counseling on the prognosis of the health of children, the study, diagnosis and treatment of children suffering from hereditary and congenital diseases of the nervous system. Author of over 150 publications.

Laboratory for Prenatal Diagnosis of Hereditary and Congenital Diseases (Head Corresponding Member of the Russian Academy of Medical Sciences Professor V.S. Baranov) of the Institute of Obstetrics and Gynecology named after. BEFORE. Otta RAMS, St. Petersburg

Instruction

Today, several thousand genetic diseases are known to be caused by abnormalities in human DNA. Each of us has 6-8 damaged genes, but they do not manifest themselves and do not lead to the development of the disease. If a child inherits two similar abnormal genes from his father and mother, he will get sick. Therefore, future parents try to get an appointment with a geneticist in order to establish a possible risk of a genetic anomaly with his help.

Down syndrome is one of the most common genetic diseases. Babies with one extra chromosome are born with an altered facial structure, reduced muscle tone, and malformations of the digestive and cardiovascular systems. Such children lag behind their peers in development. The syndrome is registered in one child out of 1000 newborns and you can find out about it already in the second trimester of pregnancy, having passed prenatal screening.

Cystic fibrosis is most common in people from the Caucasus and. If both parents are carriers of defective genes, the risk of having a baby with impaired function of the respiratory system, reproductive system and digestive tract increases. The cause of these problems is the deficiency of protein, which is vital for the body, as it controls the balance of chlorides in the cells.

Hemophilia is a disease associated with increased bleeding. This disease is inherited through the female line and affects mainly male children. As a result of damage to the genes responsible for blood clotting, hemorrhages occur in the joints, muscles and internal organs, which can lead to their deformation. If such a baby has appeared in your family, you should know that he should not be given drugs that reduce blood clotting.

Fragile X syndrome, also known as Martin-Bell syndrome, is the most common type of congenital mental retardation. There are both minor and severe developmental delays. Often the consequences of this disease are associated with autism. The course of the disease determines the number of abnormal repeating sections on the X chromosome: the more there are, the more severe the consequences of the syndrome.

Turner syndrome can only occur in your child if you are carrying a girl. One in 3,000 newborns has a partial or complete absence of one or two X chromosomes. Babies with this disease have very small stature and non-functioning ovaries. And if a female child is born with three X chromosomes, a diagnosis of trisomy X syndrome is made, which causes mild mental retardation and, in some cases, infertility.

Genetic diseases are diseases that occur in humans due to chromosomal mutations and defects in genes, that is, in the hereditary cellular apparatus. Damage to the genetic apparatus leads to serious and varied problems - hearing loss, visual impairment, delayed psycho-physical development, infertility and many other diseases.

The concept of chromosomes

Each cell of the body has a cell nucleus, the main part of which is chromosomes. A set of 46 chromosomes is a karyotype. 22 pairs of chromosomes are autosomes, and the last 23 pair are sex chromosomes. These are the sex chromosomes that men and women differ from each other.

Everyone knows that in women the composition of chromosomes is XX, and in men - XY. When a new life arises, the mother passes on the X chromosome, and the father either X or Y. It is with these chromosomes, or rather with their pathology, that genetic diseases are associated.

The gene can mutate. If it is recessive, then the mutation can be passed from generation to generation without showing up in any way. If the mutation is dominant, then it will definitely manifest itself, so it is advisable to protect your family by learning about the potential problem in time.

Genetic diseases are a problem of the modern world.

Hereditary pathology every year comes to light more and more. More than 6,000 names of genetic diseases are already known, they are associated with both quantitative and qualitative changes in the genetic material. According to the World Health Organization, approximately 6% of children suffer from hereditary diseases.

The most unpleasant thing is that genetic diseases can manifest themselves only after a few years. Parents rejoice in a healthy baby, not suspecting that the children are sick. So, for example, some hereditary diseases can declare themselves at the age when the patient himself has children. And half of these children may be doomed if the parent carries the dominant pathological gene.

But sometimes it is enough to know that the child's body is not able to absorb a certain element. If parents are warned about this in time, then in the future, simply avoiding products containing this component, you can protect the body from manifestations of a genetic disease.

Therefore, it is very important that a test for genetic diseases be done when planning a pregnancy. If the test shows the likelihood of passing the mutated gene to the unborn child, then in German clinics they can carry out gene correction during artificial insemination. Testing can also be done during pregnancy.

In Germany, you can be offered innovative technologies of the latest diagnostic developments that can dispel all your doubts and suspicions. About 1,000 genetic diseases can be identified even before the birth of a child.

Genetic diseases - what are the types?

We will look at two groups of genetic diseases (in fact there are more)

1. Diseases with a genetic predisposition.

Such diseases can manifest themselves under the influence of external environmental factors and are very dependent on individual genetic predisposition. Some diseases may appear in the elderly, while others may appear unexpectedly and early. So, for example, a strong blow to the head can provoke epilepsy, the intake of an indigestible product can cause severe allergies, etc.

2. Diseases that develop in the presence of a dominant pathological gene.

These genetic diseases are passed down from generation to generation. For example, muscular dystrophy, hemophilia, six-fingeredness, phenylketonuria.

Families at high risk of having a child with a genetic disease.

Which families need to attend genetic counseling in the first place and identify the risk of hereditary diseases in their offspring?

1. Consanguineous marriages.

2. Infertility of unknown etiology.

3. Age of parents. It is considered a risk factor if the expectant mother is over 35 years old, and the father is over 40 (according to some sources, over 45). With age, more and more damage appears in the germ cells, which increase the risk of having a baby with a hereditary pathology.

4. Hereditary family diseases, that is, similar diseases in two or more family members. There are diseases with pronounced symptoms and there is no doubt that this is a hereditary disease in parents. But there are signs (microanomalies) that parents do not pay due attention to. For example, an unusual shape of the eyelids and ears, ptosis, coffee-colored spots on the skin, a strange smell of urine, sweat, etc.

5. Aggravated obstetric history - stillbirth, more than one spontaneous miscarriage, missed pregnancies.

6. Parents are representatives of a small ethnic group or people from one small locality (in this case, there is a high probability of consanguineous marriages)

7. The impact of adverse household or professional factors on one of the parents (calcium deficiency, insufficient protein nutrition, work in a printing house, etc.)

8. Bad ecological situation.

9. The use of drugs with teratogenic properties during pregnancy.

10. Diseases, especially viral etiology (rubella, chickenpox), which the pregnant woman has suffered.

11. Unhealthy lifestyle. Constant stress, alcohol, smoking, drugs, poor nutrition can cause damage to genes, since the structure of chromosomes under the influence of adverse conditions can change throughout life.

Genetic diseases - what are the methods for determining the diagnosis?

In Germany, the diagnosis of genetic diseases is highly effective, since all known high-tech methods and absolutely all the possibilities of modern medicine (DNA analysis, DNA sequencing, genetic passport, etc.) are used to identify potential hereditary problems. Let's dwell on the most common.

1. Clinical and genealogical method.

This method is an important condition for the qualitative diagnosis of a genetic disease. What does it include? First of all, a detailed survey of the patient. If there is a suspicion of a hereditary disease, then the survey concerns not only the parents themselves, but also all relatives, that is, complete and thorough information is collected about each family member. Subsequently, a pedigree is compiled indicating all signs and diseases. This method ends with a genetic analysis, on the basis of which the correct diagnosis is made and the optimal therapy is selected.

2. Cytogenetic method.

Thanks to this method, diseases that arise due to problems in the chromosomes of a cell are determined. The cytogenetic method examines the internal structure and arrangement of chromosomes. This is a very simple technique - a scraping is taken from the mucous membrane of the inner surface of the cheek, then the scraping is examined under a microscope. This method is carried out with parents, with family members. A variation of the cytogenetic method is molecular cytogenetic, which allows you to see the smallest changes in the structure of chromosomes.

3. Biochemical method.

This method, by examining the biological fluids of the mother (blood, saliva, sweat, urine, etc.), can determine hereditary diseases based on metabolic disorders. Albinism is one of the most well-known genetic diseases associated with metabolic disorders.

4. Molecular genetic method.

This is the most progressive method at present, which determines monogenic diseases. It is very accurate and detects pathology even in the nucleotide sequence. Thanks to this method, it is possible to determine the genetic predisposition to the development of oncology (cancer of the stomach, uterus, thyroid gland, prostate, leukemia, etc.). Therefore, it is especially indicated for people whose close relatives suffered from endocrine, mental, oncological and vascular diseases.

In Germany, for the diagnosis of genetic diseases, you will be offered the whole range of cytogenetic, biochemical, molecular genetic studies, prenatal and postnatal diagnostics, plus neonatal screening of the newborn. Here you can take about 1000 genetic tests that are approved for clinical use in the country.

Pregnancy and genetic diseases

Prenatal diagnosis provides great opportunities for determining genetic diseases.

Prenatal diagnosis includes tests such as

• chorion biopsy - analysis of the tissue of the chorionic membrane of the fetus at 7-9 weeks of pregnancy; a biopsy can be performed in two ways - through the cervix or by puncturing the anterior abdominal wall;
• amniocentesis - at 16-20 weeks of gestation, amniotic fluid is obtained due to puncture of the anterior abdominal wall;
• cordocentesis is one of the most important diagnostic methods, as it examines the fetal blood obtained from the umbilical cord.

Also in the diagnosis, screening methods such as triple test, fetal echocardiography, and alpha-fetoprotein determination are used.

Ultrasound imaging of the fetus in 3D and 4D measurements can significantly reduce the birth of babies with malformations. All these methods have a low risk of side effects and do not adversely affect the course of pregnancy. If a genetic disease is detected during pregnancy, the doctor will offer certain individual tactics for managing a pregnant woman. In the early period of pregnancy in German clinics, gene correction can be offered. If the correction of genes is carried out in the embryonic period on time, then some genetic defects can be corrected.

Neonatal screening of a child in Germany

Neonatal screening of the newborn reveals the most common genetic diseases in the infant. Early diagnosis allows you to understand that the child is sick even before the first signs of the disease appear. Thus, the following hereditary diseases can be identified - hypothyroidism, phenylketonuria, maple syrup disease, adrenogenital syndrome, and others.

If these diseases are detected in time, then the chance of curing them is quite high. High-quality neonatal screening is also one of the reasons why women fly to Germany to give birth here.

Treatment of human genetic diseases in Germany

More recently, genetic diseases were not treated, it was considered impossible, and therefore unpromising. Therefore, the diagnosis of a genetic disease was regarded as a sentence, and at best, one could only count on symptomatic treatment. Now the situation has changed. Progress is noticeable, positive results of treatment have appeared, moreover, science is constantly discovering new and effective ways to treat hereditary diseases. And although it is still impossible to cure many hereditary diseases today, geneticists are optimistic about the future.

Treatment of genetic diseases is a very complex process. It is based on the same principles of influence as any other disease - etiological, pathogenetic and symptomatic. Let's briefly look at each.

1. Etiological principle of influence.

The etiological principle of exposure is the most optimal, since the treatment is directed directly at the causes of the disease. This is achieved using methods of gene correction, isolation of the damaged part of DNA, its cloning and introduction into the body. At the moment, this task is very difficult, but in some diseases it is already feasible.

2. Pathogenetic principle of influence.

The treatment is aimed at the mechanism of the development of the disease, that is, it changes the physiological and biochemical processes in the body, eliminating the defects caused by the pathological gene. As genetics develops, the pathogenetic principle of influence expands, and for various diseases every year there will be new ways and opportunities for correcting broken links.

3. Symptomatic principle of influence.

According to this principle, the treatment of a genetic disease is aimed at relieving pain and other unpleasant phenomena and preventing the further progression of the disease. Symptomatic treatment is always prescribed, it can be combined with other methods of exposure, or it can be an independent and only treatment. This is the appointment of painkillers, sedatives, anticonvulsants and other drugs. The pharmaceutical industry is now very developed, so the range of drugs used to treat (or rather, to alleviate manifestations of) genetic diseases is very wide.

In addition to drug treatment, symptomatic treatment includes the use of physiotherapy procedures - massage, inhalation, electrotherapy, balneotherapy, etc.

Sometimes a surgical method of treatment is used to correct deformities, both external and internal.

German geneticists already have extensive experience in the treatment of genetic diseases. Depending on the manifestation of the disease, on individual parameters, the following approaches are used:

• genetic dietetics;
• gene therapy,
• stem cell transplant,
• transplantation of organs and tissues,
• enzyme therapy,
• replacement therapy with hormones and enzymes;
• hemosorption, plasmophoresis, lymphosorption - cleaning the body with special preparations;
• surgery.

Of course, the treatment of genetic diseases is long and not always successful. But every year the number of new approaches to therapy is growing, so doctors are optimistic.

Gene therapy

Doctors and scientists all over the world place special hopes on gene therapy, thanks to which it is possible to introduce high-quality genetic material into the cells of a diseased organism.

Gene correction consists of the following steps:

• obtaining genetic material (somatic cells) from the patient;
• introduction of a therapeutic gene into this material, which corrects the gene defect;
• cloning of corrected cells;
• the introduction of new healthy cells into the patient's body.

Gene correction requires great care, since science does not yet have complete information about the work of the genetic apparatus.

List of genetic diseases that can be identified

There are many classifications of genetic diseases, they are conditional and differ in the principle of construction. Below we provide a list of the most common genetic and hereditary diseases:

• Gunther's disease;
• Canavan disease;
• Niemann-Pick disease;
• Tay-Sachs disease;
• Charcot-Marie disease;
• hemophilia;
• hypertrichosis;
• color blindness - immunity to color, color blindness is transmitted only with the female chromosome, but only men suffer from the disease;
• Capgras delusion;
• leukodystrophy of Peliceus-Merzbacher;
• Blaschko lines;
• micropsia;
• cystic fibrosis;
• neurofibromatosis;
• heightened reflection;
• porphyria;
• progeria;
• spina bifida;
• Angelman syndrome;
• exploding head syndrome;
• blue skin syndrome;
• Down syndrome;
• living corpse syndrome;
• Joubert's syndrome;
• stone man syndrome
• Klinefelter's syndrome;
• Klein-Levin syndrome;
• Martin-Bell syndrome;
• Marfan syndrome;
• Prader-Willi syndrome;
• Robin's syndrome;
• Stendhal syndrome;
• Turner syndrome;
• elephant disease;
• phenylketonuria.
• cicero and others.

In this section, we will dwell on each disease in detail and tell you how you can cure some of them. But it is better to prevent genetic diseases than to treat them, especially since modern medicine does not know how to cure many diseases.

Genetic diseases are a group of diseases that are very heterogeneous in their clinical manifestations. The main external manifestations of genetic diseases:

• small head (microcephaly);
• microanomalies ("third eyelid", short neck, unusually shaped ears, etc.)
• delayed physical and mental development;
• change in the genitals;
• excessive muscle relaxation;
• change in the shape of the toes and hands;
• psychological disorder, etc.

Genetic diseases - how to get a consultation in Germany?

A conversation at a genetic consultation and prenatal diagnosis can prevent severe hereditary diseases that are transmitted at the gene level. The main goal of counseling with a geneticist is to identify the degree of risk of a genetic disease in a newborn.

In order to receive high-quality counseling and advice on further actions, one must seriously tune in to communication with the doctor. Before the consultation, it is necessary to responsibly prepare for the conversation, remember the illnesses that relatives suffered, describe all health problems and write down the main questions that you would like to receive answers to.

If the family already has a child with an anomaly, with congenital malformations, capture his photographs. Be sure to tell about spontaneous miscarriages, about cases of stillbirth, about how the pregnancy went (goes).

A genetic counseling doctor will be able to calculate the risk of a baby with a severe hereditary pathology (even in the future). When can we talk about a high risk of developing a genetic disease?

• genetic risk up to 5% is considered low;
• no more than 10% - the risk is slightly increased;
• from 10% to 20% - medium risk;
• above 20% - the risk is high.

Doctors advise considering a risk of about or above 20% as a reason for terminating a pregnancy or (if not already) as a contraindication to conception. But the final decision is made, of course, by the couple.

The consultation can take place in several stages. When diagnosing a genetic disease in a woman, the doctor develops tactics for managing it before pregnancy and, if necessary, during pregnancy. The doctor tells in detail about the course of the disease, life expectancy in this pathology, about all the possibilities of modern therapy, about the price component, about the prognosis of the disease. Sometimes gene correction during artificial insemination or during embryonic development avoids the manifestations of the disease. Every year, new methods of gene therapy and the prevention of hereditary diseases are being developed, so the chances of curing a genetic pathology are constantly increasing.

In Germany, methods of combating gene mutations with the help of stem cells are being actively introduced and are already being successfully applied, new technologies are being considered for the treatment and diagnosis of genetic diseases.

hereditary diseases pediatricians, neurologists, endocrinologists

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hereditary diseases- a large group of human diseases caused by pathological changes in the genetic apparatus. Currently, more than 6 thousand syndromes with a hereditary mechanism of transmission are known, and their overall frequency in the population ranges from 0.2 to 4%. Some genetic diseases have a certain ethnic and geographical prevalence, others are found with the same frequency throughout the world. The study of hereditary diseases is mainly within the competence of medical genetics, however, almost any medical specialist can encounter such a pathology: pediatricians, neurologists, endocrinologists, hematologists, therapists, etc.

Hereditary diseases should be distinguished from congenital and family pathology. Congenital diseases can be caused not only by genetic, but also by unfavorable exogenous factors affecting the developing fetus (chemical and medicinal compounds, ionizing radiation, intrauterine infections, etc.). However, not all hereditary diseases appear immediately after birth: for example, signs of Huntington's chorea usually first manifest themselves over the age of 40 years. The difference between hereditary and family pathology is that the latter may be associated not with genetic, but with social or professional determinants.

The occurrence of hereditary diseases is caused by mutations - sudden changes in the genetic properties of an individual, leading to the emergence of new, non-normal traits. If mutations affect individual chromosomes, changing their structure (due to loss, acquisition, variation in the position of individual sections) or their number, such diseases are classified as chromosomal. The most common chromosomal abnormalities are, duodenal ulcer, allergic pathology.

Hereditary diseases can manifest themselves both immediately after the birth of a child, and at different stages of life. Some of them have an unfavorable prognosis and lead to early death, others do not significantly affect the duration and even quality of life. The most severe forms of hereditary pathology of the fetus cause spontaneous abortion or are accompanied by stillbirth.

Thanks to advances in the development of medicine, about a thousand hereditary diseases today can be detected even before the birth of a child using prenatal diagnostic methods. The latter include ultrasound and biochemical screening of I (10-14 weeks) and II (16-20 weeks) trimesters, which are carried out for all pregnant women without exception. In addition, if there are additional indications, invasive procedures may be recommended: chorionic villus biopsy, amniocentesis, cordocentesis. With a reliable establishment of the fact of severe hereditary pathology, a woman is offered an artificial termination of pregnancy for medical reasons.

All newborns in the first days of their lives are also subject to examination for hereditary and congenital metabolic diseases (phenylketonuria, adrenogenital syndrome, congenital adrenal hyperplasia, galactosemia, cystic fibrosis). Other hereditary diseases that are not recognized before or immediately after the birth of a child can be detected using cytogenetic, molecular genetic, biochemical research methods.

Unfortunately, a complete cure for hereditary diseases is currently not possible. Meanwhile, in some forms of genetic pathology, a significant prolongation of life and the provision of its acceptable quality can be achieved. In the treatment of hereditary diseases, pathogenetic and symptomatic therapy is used. The pathogenetic approach to treatment involves replacement therapy (for example, with blood clotting factors in hemophilia), limiting the use of certain substrates in phenylketonuria, galactosemia, maple syrup disease, replenishing the deficiency of a missing enzyme or hormone, etc. Symptomatic therapy includes the use of a wide range of drugs, physiotherapy, rehabilitation courses (massage, exercise therapy). Many patients with genetic pathology from early childhood need correctional and developmental classes with a teacher-defectologist and speech therapist.

The possibilities of surgical treatment of hereditary diseases are reduced mainly to the elimination of severe malformations that impede the normal functioning of the body (for example, correction of congenital heart defects, cleft lip and palate, hypospadias, etc.). Gene therapy of hereditary diseases is still rather experimental in nature and is still far from being widely used in practical medicine.

The main direction in the prevention of hereditary diseases is medical genetic counseling. Experienced geneticists will consult a married couple, predict the risk of offspring with a hereditary pathology, and provide professional assistance in making a decision about childbearing.