Women's hereditary diseases. Genetic diseases transmitted by inheritance. Medical and genetic examination. Rare hereditary diseases in children

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Everything genetic diseaseswhich today know several thousand, caused by anomalies in the genetic material (DNA) of a person.

Genetic diseases can be associated with a mutation of one or more genes, with a violation of the location, absence or doubling of whole chromosomes (chromosomal diseases), as well as with the Mitochondrial genetic material transmitted by the mother line (mitochondrial diseases).

Only diseases associated with a single gene defect (Single Gene disorders) are described more than 4000.

A little about genetic diseases

Medicine has long known that different ethnic groups have a predisposition to certain genetic diseases. For example, the immigrants from the region of the Mediterranean Sea often suffer from thalassemia. We know that the risk of a number of genetic diseases in the child strongly depends on the age of the mother.

It is also known that some genetic diseases arose with us as an attempt by the body to resist the environment. Sickle-cell anemia, according to modern data, arose in Africa, where many thousands of years Malaria was a real scourge of humanity. With sickle cell anemia, people have a mutation of red blood cells that makes the owner resistant to the malaria plasmodium.

Today, scientists have developed tests for hundreds of genetic diseases. We can conduct tests for cystic cycidosis, Down syndrome, tombophilic cross-chromosome syndrome, hereditary thrombophilia, bloom syndrome, Canvas disease, anemia of Fanconi, family disavenonomy, Gosh disease, Nimanne-Peak's disease, Klinfelter's disease, Thalassemia and many other diseases.

Mukobovysidosis.

Mukobrosis, in English-language literature known as cystic fibrosis (Cysstic Fibrosis) is one of the most common genetic diseases, especially at the immigrants from the Caucasus and Ashkenazz Jews. It is caused by a protein deficiency, which controls the balance of chlorides in cells. The result of the deficit of this protein is thickening and violation of the properties of the Secrets of the glands. Mukobovysidosis is manifested by impaired functions of respiratory organs, digestive tract, reproductive system. Symptoms can vary from minor to very heavy. For the occurrence of disease, both parents must be carriers of defective genes.

Down syndrome.

This is the most famous chromosomal disease that occurs due to the presence of an excess genetic material in 21 chromosome. Down syndrome is registered with 1 child at 800-1000 newborns. This disease is easy to identify with the help of prenatal screening. For syndrome, the abnormal abnormalities of the structure of the face, low muscle tone, malformations of the cardiovascular and digestive system, as well as developmental lag. In children with Down syndrome, symptoms are expressed in different ways, from moderate to very severe developmental disorders. This disease is equally dangerous for all ethnic groups. The most important risk factor is the age of the mother.

Syndrome breaking the X-chromosome.

The syndrome of the brittle X-chromosome, or Martina-Bell syndrome, is associated with the most common type of congenital mental retardation. Development lag can be very insignificant or heavy, sometimes syndrome is associated with autism. This syndrome is found in 1 of 1,500 men and 1 of 2,500 women. The disease is associated with the presence of abnormal repeating areas in the X chromosome - the more such sites, the hardest disease flows.

Hereditary disorders of coagulation.

Blood coagulation is one of the most complex biochemical processes occurring in the body, therefore there is a huge set of coagulation disorders at different stages. Turning disorders can cause a tendency to bleeding or, on the contrary, the formation of thrombas.

Among the known diseases - thrombophilia associated with Leidenovskaya mutation (factor V Leiden). There are other genetic disorders of coagulation, including deficiency of Prothrombin (factor II), protein deficiency C, protein deficiency, deficiency of antithrombin III, etc.

Everyone heard about hemophilia - hereditary coagulation impairment, in which hazardous hemorrhages arise into internal organs, muscles, joints, abnormal menstrual bleeding are observed, and any small injury can lead to irreparable consequences due to the inability of the body to stop bleeding. The most common is hemophilia A (shortage of coagulation factor VIII); Hemophilia is also known (deficiency of IX) and hemophilia C (deficiency of the XI factor).

There is still a very common Willebrand disease, in which spontaneous bleeding is observed due to the reduced level of factor VIII. The disease was described in 1926 by the Finnish pediatrician von Willebrand. American researchers believe that it suffers 1% of the world's population, but most of them have a genetic defect causes serious symptoms (for example, women can only have abundant menstruation). Clinically significant cases, in their opinion, are observed in 1 person per 10,000, that is, 0.01%.

Family hypercholesterolemia.

This is a group of hereditary metabolic disorders that manifest an abnormally high level of lipids and cholesterol in the blood. Family hypercholesterolemia is associated with obesity, violation of glucose tolerance, diabetes, strokes and infarction. Treatment of the disease includes changes in lifestyle and a rigid diet.

Hangtington's disease.

Hangtington's disease (sometimes Genthington) is a hereditary disease that causes the gradual degeneration of the central nervous system. The loss of functions of nerve cells in the brain is accompanied by behavioral changes, unusual sharp movements (chorea), uncontrolled muscle cuts, difficulties in walking, memory loss, voice and swallowing.

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

Durane muscular dystrophy.

With muscle dystrophy Duzhenna, symptoms are usually manifested before reaching 6 years of age. They include fatigue, muscle weakness (begins with legs and rise above), possible delay in mental development, problems with heart and respiratory system, deformation of the spine and chest. The progressive muscular weakness leads to disability, for the 12-year age, many children are already chained to the stroller. Boys are sick.

Muscular becker dystrophy.

With the muscular dystrophy of Becker, the symptoms are reminded by dystrophy of Duzhenna, but later appear and develop more slowly. Muscle weakness in the upper body is not so much expressed, as with the previous type of dystrophy. Boys are sick. The beginning of the disease falls for 10-15 years, and by 25-30 years, patients are usually chained to a wheelchair.

Sickle-cell anemia.

In the case of the hereditary disease, the form of erythrocytes, which become similar to the sickle - from here and the name is violated. Changed red blood cells cannot deliver enough oxygen to organs and tissues. The disease leads to severe crises arising repeatedly or just a few times in the whole life of the patient. In addition to pain in the chest, abdomen and bones, there is fatigue, shortness of breath, tachycardia, heat, etc.

Treatment includes painkillers, folic acid to support blood formation, blood transfusions, dialysis, as well as hydroxyurochina to reduce the frequency of episodes. Sick-cell anemia is predominantly in humans with African and Mediterranean roots, as well as residents of South and Central America.

Thalassemia.

Thalassemia (beta-thalassemias and alpha-thalassemia) is a group of hereditary diseases in which the correct hemoglobin synthesis is disturbed. As a result, anemia is developing. Patients complain of fatigue, shortness of breath, pain in the bones, they have an increase in the spleen and bone fragility, poor appetite, dark urine, the yellowness of the skin. Such people are subject to infectious diseases.

Phenylketonuria.

Phenylketonuria is the result of a liver enzyme deficiency, which is necessary to convert the amino acid phenylalanine to another amino acid, tyrosine. If the disease is not diagnosed in time, large amounts of phenylalanine accumulate in the child's body, causing a lag in mental development, damage to the nervous system and convulsions. The treatment is a strict diet and the use of tetrahydrobiotrine cofactor (BH4) to reduce the level of phenylalanine in the blood.

Alfa-1-AntitripSin deficiency.

This disease arises due to the insufficient amount of the alpha-1-antithropsyne enzyme in lungs and blood, which leads to such consequences as emphysema. Early symptoms of disease include shortness of breath, whistling breathing. Other symptoms: weight loss, frequent respiratory infections, fatigue, tachycardia.

In addition to those listed above, there are a huge set of other genetic diseases. Today they have no radical methods of treatment, but the gene therapy has enormous potential. Many illnesses, especially with timely diagnosis, can be successfully monitored, and patients get the opportunity to live a full, productive life.

Every gene of the human body carries unique informationcontained in DNA. The genotype of a concrete individual provides both its unique external signs, and largely determines its state of health.

The interest of medicine towards genetics steadily grows from the second half of the 20th century. The development of this field of science opens up new methods for researching diseases, including rare, which were confused incurable. To date, several thousand diseases have been discovered, which are completely dependent on human genotype. Consider the causes of these diseases, their specificity, which methods of their diagnosis and treatment applies modern medicine.

Types of genetic diseases

Genetic diseases are considered to be inherited by the disease, which are due to mutations in genes. It is important to understand that congenital defects that appeared as a result of intrauterine infections, the reception of pregnant prohibited drugs and other external factors that could affect pregnancy - are not related to genetic diseases.

Genetic diseases of a person are divided into the following types:

Chromosomal aberrations (restructuring)

This group includes pathologies associated with changes in the structural composition of chromosomes. These changes are caused by the discontinuity of chromosomes, which leads to a redistribution, doubling or loss of genetic material in them. It is this material that should provide storage, reproduction and transmission of hereditary information.

Chromosomal restructuring lead to a genetic imbalance that negatively affects the normal course of the development of the body. Abberatrations in chromosomal diseases are manifested: Cinema Cinem Cinder, Down Syndrome, Edwards Syndrome, Poly Osomes in X-Chromosome or Y-chromosome, etc.

The most common chromosomal anomaly in the world of Down syndrome. This pathology is due to the presence of one excess chromosome in the human genotype, that is, the patient has 47 chromosomes instead of 46. In people with a downhill, the 21st pair (they are 23) with chromosomes in three copies, and not laid two. There are rare cases where this genetic disease is the result of the translocation of the chromosome of the 21st pair or mosaicism. In the absolute majority of cases, the syndrome is not a hereditary impairment (91 out of 100).

Monogenic diseases

This group is sufficiently heterogeneous on clinical manifestations of diseases, but each genetic disease is due to DNA damage at the gene level. To date, over 4,000 monogenic diseases are open and described. These include diseases with mental retardation, and hereditary metabolic diseases, isolated forms of microcephaly, hydrocephalius and a number of other diseases. Some of the diseases are already noticeable in newborns, others make themselves known only in the pubertal period or to achieve a person 30 - 50 years.

Polygenic diseases

Patology data can explain not only genetic predisposition, but also, largely, external factors (incorrect meals, poor ecology, etc.). Polygenic diseases are also called multifactorial. It is justified by the fact that they appear as a result of many genes. The most common multifactorial diseases include: rheumatoid arthritis, hypertension, ischemic heart disease, diabetes mellitus, liver cirrhosis, psoriasis, schizophrenia, etc.

These diseases make up about 92% of the total number of pathologies that are inherited. With age, the frequency of disease increases. In childhood, the number of patients is at least 10%, and in the elderly - 25-30%.

To date, several thousand genetic diseases are described, just a brief list of some of them:

Most common genetic diseases	The most rare genetic diseases
Hemophilia (blood clotting violation)	The confusion of the Caps (a person believes that someone from loved ones is replaced by a clone).
Daltonism (inability to distinguish colors)	Klein-Levin syndrome (excessive drowsiness, behavior impairment)
Mukobovysidosis (violation of the functions of respiratory organs)	Elephant disease (painful skin growth)
Spinal splitting (vertebrae do not close around the spinal cord)	Cicero (psychological disorder, the desire is inedible things)
Tea-Saks disease (CNS defeat)	Standal syndrome (rapid heartbeat, hallucinations, loss of consciousness at the sight of works of art)
Cretefelter syndrome (androgenic failure in men)	Syndrome Robin (Plug of the maxillofacial region)
Prader-Willy syndrome (physical and intellectual development delay, appearance defects)	Hypertrichosis (excess hair growth)
Phenylketonuria (violation of the metabolism of amino acids)	Blue Skin Syndrome (Blue Skin Cover)

Some genetic diseases can appear literally every generation. As a rule, they appear not in children, but with age. Risk factors (bad ecology, stress, violations of the hormonal background, improper nutrition) contribute to the manifestation of a genetic error. Such diseases include diabetes, psoriasis, obesity, hypertension, epilepsy, schizophrenia, Alzheimer's disease, etc.

Diagnosis of gene pathologies

Not every genetic disease is found from the first day of a person's life, some of them show themselves only after several years. In this regard, it is very important to take timely research for the presence of gene pathologies. You can implement such diagnostics at the stage of pregnancy planning, and during the period of the child.

There are several diagnostic methods:

Biochemical analysis

Allows you to establish diseases associated with hereditary metabolic disorders. The method implies a human blood test, a qualitative and quantitative study of other biological fluids of the body;

Citogenetic method

Reveals the causes of genetic diseases, cutting in violations in the organization of cell chromosomes;

Molecular cytogenetic method

An improved version of the cytogenetic method, allowing to detect even microimations and the smallest damage chromosomes;

Syndromological method

Genetic disease in many cases can have the same symptoms that will coincide with the manifestations of other, nonpatological diseases. The method lies in the fact that with the help of a heinee survey and special computer programs from the entire spectrum of symptoms, only those that specifically indicate a genetic disease are distinguished.

Molecular genetic method

Currently is the most reliable and accurate. It makes it possible to study DNA and human RNA, detect even minor changes, including in the sequence of nucleotides. Used to diagnose monogenic diseases and mutations.

Ultrasound Research (Ultrasound)

To identify diseases of the women's reproductive system, ultrasound of the small pelvis organs use. To diagnose congenital pathologies and some chromosomal diseases of the fetus also use ultrasound.

It is known that about 60% of spontaneous miscarriage in the first trimester are due to the fact that the fetus had a genetic disease. The mother's body is thus getting rid of a non-visual embryo. Hereditary genetic diseases can also provoke infertility or repetitive miscarriages. Often, a woman has to go through many unsuccessful surveys until it turns to a genetically doctor.

The best prevention of the occurrence of genetic disease in the fetus is a genetic examination of parents during pregnancy planning. Even being healthy, a man or a woman can carry damaged genes of genes in its genotype. The universal genetic test is able to identify more than one hundred diseases that are based on gene mutations. Knowing that at least one of the future parents is a carrier of violations, the doctor will help to choose adequate tactics of pregnancy and its maintenance. The fact is that gene changes accompanying pregnancy can cause irreparable harm to the fetus and even become a threat to the life of the mother.

During pregnancy, women, with the help of special research, are sometimes diagnosed genetic diseases of the fetus that can raise the question of whether it is worth keeping pregnancy. The earliest period of data diagnostics of pathologies is the 9th week. This diagnosis is carried out using the safe non-invasive DNA of the Panorama test. The test is that the future mothers take blood from the vein, using the sequencing method, the genetic material of the fetus is isolated from it and study it for the presence of chromosomal anomalies. The study is able to identify such deviations as Down Syndrome, Edwards Syndrome, Pataau syndrome, microdellite syndromes, pathologies of sex chromosomes and a number of other anomalies.

An adult man, having passed genetic tests, can learn about its predisposition to genetic diseases. In this case, he will have a chance to resort to effective prophylactic measures and prevent the occurrence of a pathological condition, observing a specialist.

Treatment of genetic diseases

Any genetic disease is difficult for medicine, especially since some of them are quite difficult to diagnose. A huge number of diseases can not be heal in principle: Down syndrome, shinfelter syndrome, flourous acidosis, etc. Some of them seriously reduce the life expectancy of a person.

Basic treatments:

Symptomatic
Removes the pain and discomfort symptoms, prevents the progress of the disease, but does not eliminate its cause.
genetic doctor

Kiev Julia Kirillovna

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Content

A person takes a lot of lungs or severe diseases during his life, but in some cases it is already born with them. Hereditary diseases or genetic disorders appear in a child due to mutation of one of the DNA chromosomes, which leads to the development of the ailment. Some of them carry only external changes, but there are a number of pathologies that threaten the life of the baby.

What is hereditary diseases

These are genetic diseases or chromosomal anomalies, the development of which is associated with a violation in the hereditary cell of the cells transmitted through reproductive cells (gamets). The emergence of such hereditary pathologies is associated with the process of transmission, implementation, storage of genetic information. More and more men have a problem with the deviations of this kind, so the chance to conceive a healthy child is getting smaller. Medicine conducts continuous research to develop a procedure for preventing the birth of children with deviations.

The reasons

Genetic diseases of hereditary type is formed when mutation of gene information. They identified they can be immediately after the birth of a child or, after a long time with a long development of pathology. Three main reasons for the development of hereditary ailments are distinguished:

chromosomal anomalies;
chromosome disorders;
gene mutations.

The last reason is a group of hereditarianly predisposed type, because the factors of the external environment also affect their development and activation. A vivid example of such diseases is considered hypertensive disease or diabetes mellitus. In addition to mutations, their progression is influenced by a long overvoltage of the nervous system, improper nutrition, mental injuries and obesity.

Symptoms

Each hereditary disease has its own specific signs. At the moment, more than 1600 different pathologies are known that cause genetic and chromosomal anomalies. Manifestations differ in severity and brightness. To prevent the appearance of symptoms, it is necessary to identify the likelihood of their appearance in time. For this use the following methods:

Twin. Hereditary pathologies are diagnosed when studying the differences, the similarities of the twins to determine the influence of genetic features, the external environment for the development of diseases.
Genealogical. The probability of the development of pathological or normal signs is studied using a human pedigree.
Cytogenetic. The chromosomes of healthy and sick people are investigated.
Biochemical. It is monitored by the metabolism in humans, the features of this process are distinguished.

In addition to these methods, most girls are undergoing an ultrasound examination during the nursing of the child. It helps to determine the likelihood of congenital developmental defects (with 1 trimester), to assume the presence of a certain number of chromosomal diseases from the future child of a certain number of chromosomal diseases of the nervous disease.

In children

The overwhelming majority of hereditary diseases are manifested in childhood. Each of the pathologies has its own signs that are unique to every disease. Anomalies are a large amount, therefore, they will be described in more detail below. Thanks to modern methods of diagnosis, identify deviations in the development of the child, it is possible to determine the likelihood of hereditary diseases during the launch of the child.

Classification of hereditary human diseases

A combination of genetic diseases is carried out due to their occurrence. The main types of diseases of hereditary nature are:

Genetic - arise from DNA damage at the gene level.
Predisposition for hereditary type, autosomal-recessive diseases.
Chromosomal anomalies. Diseases arise due to the appearance of unnecessary or loss of one of chromosomes or their aberrations, deletions.

List of hereditary human diseases

Science is known more than 1500 diseases that belong to the above categories. Some of them are extremely rare, but certain types of hearing in many. The most famous are the following pathologies:

albright's disease;
ichthyosis;
thalassemia;
marfan syndrome;
otosclerosis;
paroxysmal misoplege;
hemophilia;
fabryal disease;
muscle dystrophy;
clanfelter syndrome;
down syndrome;
sherosezhevsky-Turner syndrome;
cat shout syndrome;
schizophrenia;
congenital hip dislocation;
heart defects;
sleeping sky and lips;
syndactilia (blowing fingers).

What are the most dangerous

Of the above pathologies, there are diseases that are considered dangerous to human life. As a rule, it is included in this list those anomalies that have polysomy in chromosomal set or trisomy when instead of two observed from 3 to 5 or more. In some cases, 1 chromosome is detected instead of 2. All such anomalies become a consequence of deviations in cell division. With such pathology, the child lives up to 2 years if the deviations are not very serious, it lives up to 14 years. The most dangerous illnesses are considered:

caenwean's disease;
edwards syndrome;
hemophilia;
syndrome Patau;
spinal muscular amyotrophy.

Down syndrome

The disease is inherited when both or one of the parents has defective chromosomes. Down syndrome develops due to trisomy21 chromosomes (instead of 2 are 3). Children with this illness suffer from strabismism, have an abnormal shape of the ears, a fold on her neck, there is a mental retardation and heart problems. Danger for life This abnormal chromosoma does not represent. According to statistics from 800, 1 is born with this syndrome. Women who want to give birth after 35 The likelihood of the birth of a child with a dow far (1 to 375), after 45 years probability 1 to 30.

Acrossorodisfalangia

The disease has an autosomal dominant type of inheritance anomaly, the cause becomes a disorder in 10 chromosome. Scientists call the disease of acrochorodisphlasty or apert syndrome. Characterized by the following symptoms:

disorders of the ratio of the length and width of the skull (Brachiecafali);
inside the skull, elevated blood pressure (hypertension) is formed due to the captivity of coronary seams;
syndactilia;
mental retardation against the background of squeezing the brain skull;
lob.

What are the possibility of treating hereditary diseases

Doctors constantly work on the problem of gene anomalies and chromosomes, but all treatment at this stage is reduced to suppressing symptoms, it cannot achieve complete recovery. Therapy is selected depending on the pathology to reduce the severity of the signs. Often use such treatment options:

An increase in the number of incoming coenzymes, for example, vitamins.
Dietherapy. An important point that helps to get rid of a number of unpleasant consequences of hereditary anomalies. If the diet is violated, a sharp deterioration of the patient's condition is immediately observed. For example, with phenylketonurium, the products that contain phenylalanine are completely out of the diet. The refusal of this measure can lead to severe idiotia, so doctors focus on the need for diet and therapy.
Consumption of those substances that are absent in the body due to the development of pathology. For example, with orotoduria prescribes cytidyl acid.
In disruption of metabolism, it is necessary to ensure timely purification of the body from toxins. Wilson-Konovalov's disease (copper accumulation) is borne by Dr. Penicilline, and hemoglobinopathy (iron accumulation) is a presveron.
Inhibitors help block excessive enzyme activity.
Possible transplantation of organs, fabric sites, cells that contain normal genetic information.

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 are known with a hereditary transmission mechanism, and their total frequency in the population ranges from 0.2 to 4%. Some genetic diseases have a certain ethnic and geographical prevalence, others - with the same frequency are found all over the world. The study of hereditary diseases is mainly in the competence of medical genetics, but almost any medical professionals can face such pathology: pediatricians, neurologists, endocrinologists, hematologists, therapists, etc.

Hereditary diseases should be distinguished from congenital and family pathology. Congenital diseases may be due not only to genetic, but also adverse exogenous factors acting on the developing fruit (chemical and drug compounds, ionizing radiation, intrauterine infections, etc.). At the same time, not all hereditary diseases appear immediately after birth: so, for example, the signs of Khorean Huntington usually declare themselves over the age of 40 years. The difference between hereditary and family pathology is that the latter may not be associated with genetic, but by socially domestic or professional determinants.

The emergence of hereditary diseases is due to mutations - sudden changes in the genetic properties of the individual, leading to the emergence of new signs that are not inherent in the norm. If mutations affect individual chromosomes, changing their structure (due to the loss, acquisitions, variations of the position of individual sections) or their number, such diseases are chromosomal. The most common chromosomal anomalies are Down syndrome (trisomy of 21 chromosome), Edwards syndrome (trisomy of 18 chromosome), Klinfelter syndrome (polisomy on the X-chromosome in men), "Feline Creek" syndrome, etc.

Hereditary diseases caused by mutations at the gene level belong to gen3 diseases. They can be monogenic (caused by mutation or lack of individual genes) or polygenic (caused by changes in many genes). Among the monogenic diseases, there is a pathology with an autosomal-dominant type of inheritance (atherosclerosis syndrome, hypertensive disease, diabetes mellitus, peptic ulcer of the stomach and 12-rosewood, allergic pathology.

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

Thanks to the successes of medicine development, about a thousand hereditary diseases today can be revealed even before the birth of a child with the help of prenatal diagnostic methods. The latter include ultrasound and biochemical screening I (10-14 weeks) and II (16-20 weeks) of trimesters, which are carried out without exception to pregnant women. In addition, in the presence of additional readings, the passage of invasive procedures can be recommended: Biopsy Vorsin Chorion, Amniocense, cordo-beer. With a significant establishment of a fact of severe hereditary pathology, a woman is offered an artificial interruption of pregnancy for medical testimony.

All newborns in the first days of their life are also subject to a survey on hereditary and congenital metabolic diseases (phenylketonuria, adrenogenital syndrome, congenital hyperplasia of adrenal glands, galactosemia, fiberglass). 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, the complete deregulation of hereditary diseases is currently not possible. Meanwhile, with some forms of genetic pathology, a significant extension of life can be achieved and ensuring its acceptable quality. In the treatment of hereditary diseases, pathogenetic and symptomatic therapy is used. The pathogenetic approach to treatment involves conducting substitution therapy (for example, blood coagulation factors for hemophilia), restricting the use of certain substrates during phenylketonurium, galactosemia, maple syrup disease, the replenishment of the lack of enzyme or hormone, etc. Symptomatic therapy includes the use A wide range of drugs, physiotherapy, rehabilitation courses (massage, leaps). Many patients with genetic pathology from early childhood need correctional and educational classes with a teacher-defectologist and spectacle.

The possibilities of surgical treatment of hereditary diseases are minimized, mainly to eliminate severe malformations that prevent the normal functioning of the organism (for example, the correction of congenital heart defects, the unguardment of the upper lip and the nose, hypospadia, etc.). The gene therapy of hereditary diseases is still wearing experimental nature and is still far from widespread use in practical medicine.

The main direction of the prevention of hereditary diseases is medical and genetic consulting. Experienced genetics doctors will consult a married couple, predict the risk of the appearance of offspring with hereditary pathology, will provide professional assistance in making decisions on childbearing.

V.G. Vaharlovsky - medical genetic, children's neuropathologist of the highest category, Candidate of Medical Sciences. Doctor of the genetic laboratory of prenatal diagnostics of hereditary and congenital diseases of the IAG. BEFORE. From more than 30 years, he is engaged in medical and genetic consulting on the forecast of the health of children, the study, diagnosis and treatment of children suffering from hereditary and innate diseases of the nervous system. Author of more than 150 publications.

Each of us, thinking about the child, dreams of having only healthy and ultimately a happy son or daughter. Sometimes our dreams are crawling, and the child appears seriously ill, but this does not mean that this one, native, blood (according to scientific: biological) child in the overwhelming majority of cases will be less love and less relative. Of course, at the birth of a sick child of worries, material costs, the load - physical and moral, it arises immeasurably than when the birth of healthy. Some condemn the mother and / or father who refused to a sick child. But, as the Gospel tells us: "Do not judge and do not judge." Refusal to the child in many reasons for both the mother and / or father (socially domestic, material, age and other) and the child (the severity of the disease, the possibility and prospects of treatment, etc.). So-called refusal children can be both sick and practically healthy people regardless of age: both newborns and breast-age children and older.

For different circumstances, the spouses decide to take a child from a children's home or immediately from the maternity hospital. It is less likely to this, from our point of view, a humane bold civil act, make lonely women. It happens that the children's house leaves and disabled children, their named parents consciously take into a child's family with a disease or children's cerebral paralysis and others.

The task of this paper includes the coverage of the clinical and genetic features of the most common hereditary diseases, which manifest itself in a child immediately after birth and then, on the basis of a clinical picture of the disease, a diagnosis may be diagnosed, or during the next years of the child's life, when pathology is diagnosed depending on time The appearance of the first symptoms specific for this disease. Some diseases can be identified in a child before the appearance of clinical symptoms with a number of laboratory and biochemical, cytogenetic and molecular genetic studies.

The likelihood of the birth of a child with congenital or hereditary pathology, the so-called population or general risk equal to 3-5%, pursues each pregnant woman. In some cases, you can predict the birth of a child with one disease or other disease and diagnose pathology already in the period of intrauterine. Some congenital defects and diseases are installed in the fetus using laboratory and biochemical, cytogenetic and molecular genetic techniques, more precisely, the complex of prenatal (prenatal) diagnostics methods.

We are convinced that all children offered for adoption / adoption should be in detail inspected by all medical professionals in order to eliminate the relevant profile pathology, including those inspected and examined by genetics. At the same time, all known data on the child and his parents should be taken into account.

Chromosomal mutations

In the kernel of each cell of the human body there are 46 chromosomes, i.e. 23 pairs in which all hereditary information is laid. 23 chromosome people receive from mother with an egg and 23 - from father with sperm. When merging these two genital cells, the result is obtained as we see in the mirror and around ourselves. The chromosome is engaged in a specialist cytogenetics. For this purpose, blood cells are used as lymphocytes, which are specially processed. A set of chromosomes distributed by a specialist in pairs and on the ordinal number is the first pair, etc., called the karyotype. We repeat, in the kernel of each cell contains 46 chromosomes or 23 pairs. The last pair of chromosomes is responsible for half a person. In girls it is a XX chromosome, one of them is obtained from the mother, the other from the Father. The boys also have XY genital chromosomes. The first was obtained from the mother and the second from the Father. Half spermatozoa contain x chromosome and the second half y chromosome.

There is a group of diseases caused by a change in chromosomic set. The most frequent of them is a Daun disease (one by 700 newborns). The diagnosis of this disease in the child must put a neonatologist in the first 5-7 days of stay of the newborn in the maternity hospital and confirm the study of the karyotype of the child. In case of Daun disease, the karyotype is 47 chromosomes, the third chromosome is numbered at the 21st pair. Girls and boys are sick of this chromosomal pathology equally.

Only among girls can be Sherchesev-Turner's disease. The first signs of pathology are most often noticeable at the 10-12-year-old age when the girl has little growth, low hair on the back of the head, in 13-14 years old, the absence of any hints for menstruation. There is a slight lag of mental development. The lead feature in adult patients with Shereeshevsky-Turner is infertility. The karyotype of such a patient is 45 chromosomes. There is no one x chromosome. The frequency of the disease is 1 per 3,000 girls and among girls with an increase of 130-145 cm - 73 per 1000.

Only in male people there is a hypinfelter disease, the diagnosis of which is set most often in 16-18 years. The patient has a high height (190 cm and above), often a lightweight lag of mental development, a disproportionately growth of long hands, covering the chest when grabbing it. In the study of the karyotype, 47 chromosomes are observed - 47, XXY. In adult patients with Kleynfelter's disease, the leading symptom is infertility. Distribution of the disease is 1: 18,000 healthy men, 1: 95 boys lagging behind mental development and one among 9 men who have infertility.

You / She described the most frequent chromosomal diseases. More than 5,000 diseases of hereditary nature belong to the monogenic, under which the change is observed, mutation, in any of the 30,000 genes consisting in the nucleus of the human cell. The work of certain genes contributes to the synthesis (formation) of this genuine protein or proteins responsible for the functioning of cells, organs and organism systems. The violation (mutation) of the gene leads a violation of protein synthesis and further violation of the physiological function of cells, organs and systems of the body, in the activities of which this protein participates. We will analyze the most frequent of these diseases.