Causes and prevention of hereditary diseases. Diagnosis, treatment and prevention of hereditary diseases Congenital diseases and prevention of treatment

Modern medicine has now reached the highest level. Certain successes have also been recorded in the fight against hereditary diseases. However, as important as the treatment of these ailments would be, the priority is prevention. This process is carried out in two directions: preventing the emergence of new diseases and preventing the birth of children in those families where there are hereditary problems. Many people identify them with congenital diseases. However, there is a fundamental difference between them. Congenital diseases are caused by several factors. In addition to hereditary problems, external circumstances, such as exposure to drugs, radiation, etc., can serve as activators of the disease. In any case, the prevention of hereditary diseases must be carried out without fail in order to avoid serious consequences in the future.

The Importance of Genetics

It is worth noting that before engaging in prevention, it is necessary to find out if there are problems in a particular family. In this matter, genetic factors are of great importance. For example, several members of a cell of society were found to have a hereditary disease. Then other family members must undergo a special examination. It will help identify people who have a predisposition to this disease. Timely prevention and treatment of hereditary diseases will save you from many problems in the future.

Currently, scientists are working on studying the genes of predisposition to chronic diseases. If everything goes well, then it will be possible to form certain groups of patients and begin to implement preventive measures.

genetic passport

As already noted, modern medicine is developing every day. This also applies to the prevention of hereditary diseases. Specialists are now seriously thinking about introducing a genetic passport. It represents information reflecting the state of a group of genes and marker loci in a particular individual. It is worth noting that this project has already been pre-approved, and countries such as the United States and Finland are allocating investments to develop the idea.

The introduction of the genetic passport seems to be a serious step in the development of diagnostics and prevention of hereditary diseases. After all, with its help it will be possible to easily identify a predisposition to pathology and begin to deal with it.

Detection of susceptibility to disease

To begin with, it is worth saying that every family should monitor their health and be aware of their hereditary ailments. If you correctly compose and analyze the pedigree, you can detect the predisposition of the family to a particular pathology. Then, using various methods, specialists identify the presence of a tendency of individual members of the cell of society to the disease.

Nowadays, genes of predisposition to allergies, myocardial infarction, diabetes mellitus, asthma, oncology, gynecological diseases, etc. have been discovered. Sometimes a doctor assesses the patient's immunity level and determines the presence of altered genes. It should be noted that hereditary and congenital diseases and their prevention is a rather complicated matter. Therefore, you first need to conduct the most complete research in order to have an idea of \u200b\u200bthe problem. Medical examinations should be carried out only with the consent of the individual, while the specialist is obliged to maintain the confidentiality of information.

After receiving the result, the specialist, also with the consent, can send them to your doctor. And then the doctor will begin work on the prevention of hereditary diseases.

Types of hereditary pathologies

Like any other ailment, this one has its own classification. Hereditary problems are divided into three main types:

Genetic diseases. This disease occurs as a result of DNA damage at the gene level.
Chromosomal diseases. This pathology appears due to the wrong number of chromosomes. The most common hereditary disease of this species is Down syndrome.
Diseases with hereditary predisposition. These include diabetes mellitus, hypertension, schizophrenia, etc.

As for the methods of preventing hereditary diseases, several of the most effective ones can be distinguished, which will be discussed below.

Diagnosing an illness before the baby is born

At the moment, such studies are very effective. This is due to the introduction of the latest methods of prenatal diagnosis. Thanks to these methods, it became possible to recommend not to have children in families, and even to terminate the pregnancy. It is impossible to do without extreme measures, because when a hereditary pathology is detected, it is necessary to take measures. Otherwise, unsolvable situations may arise that will lead to serious consequences.

With the help of prenatal diagnosis, it is possible to predict the outcome of a pregnancy with a certain pathology. When conducting various studies, it is possible with a great degree of probability to detect problems in the development of the fetus, as well as about half a thousand hereditary ailments.

The reason for starting a diagnosis can be:

identification of a specific disease in the family;
certain diseases of both parents or only the mother;
woman's age (over 35 years).

Methods of prenatal diagnosis

Measures for the prevention of hereditary diseases include methods for prenatal detection of ailments. Among them are:

Amniocentesis. Its essence lies in the extraction of amniotic fluid. This process is carried out at 20 weeks of gestation by means of a puncture of the abdominal wall.
Chorionic biopsy. This method consists in obtaining chorion tissue. It should be used earlier, namely at 8-9 weeks of pregnancy. The result is achieved by puncture of the abdominal wall or through access to the cervix.
Placentocentesis. In this case, you need to get the villi of the placenta. This method is used at any time during pregnancy. As in previous cases, villi can be obtained by puncturing the abdominal wall.
Cordocentesis. Experts identify this method as the most effective. Its essence is to obtain blood by puncturing the umbilical cord. Apply the method at 24-25 weeks of pregnancy.

Study of pregnant women

Diagnosis, prevention and treatment of hereditary diseases in unborn children with defects is carried out using screening of pregnant women. This process is carried out in two stages: detection of the level of blood protein and ultrasound of the fetus.

The first procedure is performed by obstetricians or gynecologists who are qualified and have the necessary equipment. The protein level is checked twice: at 16 and 23 weeks of pregnancy.

The second stage is relevant only if there are any suspicions that the unborn child has problems. Ultrasound examination is best done in special institutions. After that, a genetic consultation is performed, on the basis of which the method of prenatal diagnosis is selected. After all the necessary tests are passed, the further fate of the pregnancy will be decided by specialists.

Examination of newborn children

What is the prevention of hereditary diseases? This question is asked by many people because they think it cannot be prevented, but they are wrong. With timely diagnosis and treatment, hereditary ailments will not give complications that can lead to death.

Screening is a fairly popular and effective method of detecting a disease. A huge number of such programs have been developed. They help to make a survey of the preclinical picture of certain diseases. They take place to be if the disease is severe. Then, in case of early and timely diagnosis, the disease can be cured.

There is such a practice in Russia now. Some clinics have introduced programs for the diagnosis and treatment of hypothyroidism and phenylketonuria. As a test, blood is taken from children on the 5th-6th day of life. Those with identified violations belong to a certain risk group. Such children are prescribed treatment, due to which the chance of complications is significantly reduced.

genetic counseling

Genetic counseling is specialized medical care aimed at preventing the birth of sick children. Human hereditary diseases and their prevention occupies a special place among other ailments. After all, we are talking about children who have not even been born yet.

Counseling can only be carried out by a highly qualified specialist in the field of genetics. This method is perfect for preventing the birth of children with hereditary diseases that are difficult to treat. The purpose of counseling is to determine the risk of a child being born with a hereditary disease. Also, the doctor needs to explain to the parents the significance of this procedure and assist in making a decision.

Grounds for consultation

Prevention of hereditary diseases is developed at a high level thanks to new methods and techniques. Genetic counseling is carried out in the following cases:

a child is born with a congenital pathology of development;
suspicion or establishment of a hereditary disease in the family;
marriages between relatives;
if there were cases of abortions or stillbirths;
the age of the pregnant woman (more than 35 years);
pregnancy is difficult and with complications.

The doctor assumes a great responsibility when he gives advice on which depends the prevention of the birth of a handicapped child, doomed to physical and mental suffering. Therefore, it is necessary to be based not on impressions, but on accurate calculations of the probability of the birth of a sick child.

Conclusion

Often there are cases when parents themselves are afraid to give birth to a sick baby and refuse to do so. These fears are not always justified, and if the doctor does not convince them, then a completely healthy family may not take place.

Prevention of hereditary diseases begins in the doctor's office. After conducting the necessary research, the specialist must explain all the nuances to the parents before they make a final decision. In any case, they have the last word. The doctor, in turn, must do everything possible to help the child be born healthy and establish a healthy family.

Treatment of hereditary metabolic anomalies. The increased interest of medical genetics in hereditary diseases is explained by the fact that in many cases knowledge of the biochemical mechanisms of the development of the disease makes it possible to alleviate the suffering of the patient. The patient is given enzymes that are not synthesized in the body or products that cannot be used due to the lack of enzymes necessary for this in the body are excluded from the diet. Diabetes mellitus is characterized by an increase in the concentration of sugar in the blood due to the lack of insulin, a hormone of the pancreas. This disease is caused by a recessive mutation. It is treated by injecting insulin into the body.

However, it should be remembered that only the disease is cured, that is, the phenotypic manifestation of a harmful gene, and the cured person continues to be its carrier and can pass this gene on to his descendants. Now more than a hundred diseases are known, in which the mechanisms of biochemical disorders have been studied in sufficient detail. In some cases, modern methods of microanalysis make it possible to detect such biochemical disorders even in individual cells, and this, in turn, makes it possible to diagnose the presence of such diseases in an unborn child by its individual cells floating in the amniotic fluid of a pregnant woman.

Rh factor. Among the well-studied features of a person is the system of blood groups. For example, consider the blood system "rhesus". The gene responsible for it can be dominant (denoted Rh +) when a protein called Rh factor is present in the blood, and recessive (denoted Rh -) when the protein is not synthesized. If an Rh-negative woman marries an Rh-positive man, her child may also be Rh-positive. In this case, the Rh factor will be synthesized in the child's body. Since the circulatory systems of the fetus and mother communicate, this protein will enter the mother's body. For the mother's immune system, this protein is foreign, so she will begin to produce antibodies against it (remember § 4). These antibodies will destroy the hematopoietic cells of the fetus. Their decay products are toxic and cause poisoning of both the mother's body and the fetus. This may be the cause of fetal death or the birth of a child with a profound degree of mental retardation.

Elucidation of the nature of the inheritance of this blood system and its biochemical nature made it possible to develop medical methods that saved mankind from a huge number of annual childhood deaths.

The undesirability of consanguineous marriages. In modern society, consanguineous marriages (marriages between cousins) are comparatively rare. However, there are areas where, for geographical, social, economic or other reasons, small contingents of the population live in isolation for many generations. In such isolated populations (so-called isolates), the frequency of consanguineous marriages, for obvious reasons, is much higher than in ordinary "open" populations. Statistics show that parents who are related, the probability of having children affected by certain hereditary ailments, or the frequency of early infant mortality is tens, and sometimes even hundreds of times higher than in unrelated marriages. Consanguineous marriages are especially undesirable when there is a possibility of spouses being heterozygous for the same recessive detrimental gene.

Medical genetic counseling. Knowledge of human genetics makes it possible to predict the probability of the birth of children suffering from hereditary ailments in cases where one or both spouses are sick or both parents are healthy, but the hereditary disease occurred in the ancestors of the spouses. In some cases, it is possible to predict the probability of having a second healthy child if the first one was affected by a hereditary disease.

As the biological and especially genetic education of the general population increases, parents or young married couples who do not yet have children turn to geneticists more and more often with the question of the magnitude of the risk of having a child affected by a hereditary anomaly. Medical genetic consultations are now open in many regional and regional centers of Russia.

In the coming years, such consultations will firmly enter the life of people, as children's and women's consultations have long been included. The widespread use of genetic counseling plays an important role in reducing the frequency of hereditary diseases and saves many families from the misfortune of having unhealthy children. For example, in the United States, thanks to a government-funded prevention program, the frequency of children born with Down syndrome has noticeably decreased.

Concern for the cleanliness of the human environment, an uncompromising fight against pollution of water, air, food products with substances that have a mutagenic and carcinogenic effect (i.e., causing mutations or malignant degeneration of cells), a thorough check for the "genetic harmlessness" of all cosmetics and medicines and household chemicals - all this is an important condition for reducing the frequency of hereditary diseases in people.

Why do you think parents who are closely related are more likely to have children affected by hereditary diseases?
What are the treatment options for hereditary diseases?
Do genes change in the treatment of hereditary diseases?
Why is family marriage undesirable?
What is genetic counseling based on and what are its goals?

Today, the number of hereditary diseases, even taking into account the constant development of medicine, does not stop growing and makes up a significant share in the list of common human pathologies. Doctors of all specializations have to deal with the treatment of such diseases, although it is not always possible to determine the genetic characteristics of a particular disease in a clinical setting. And this is understandable, because diagnosing pathologies of a hereditary type is not always so simple, it is a rather labor-intensive process.

Difficulties in diagnosis are due to the variety of various nosological forms of genetic diseases. Some diseases are extremely rare, so it is important for the attending physician to consider the main principles that can help identify uncommon pathology and make an accurate diagnosis.

Diagnosis of the patient is carried out taking into account several points. The clinical picture, the results of laboratory tests and genetic testing are taken into account. It is important to know that any hereditary disease can develop, hiding, for example, behind the signs of a somatic disease. Therefore, only a competent doctor should deal with the diagnosis of diseases.

Before making a diagnosis, the specialist will necessarily conduct a general clinical examination of the patient and, at the slightest suspicion of any hereditary disease, will perform a differential diagnosis. Also of paramount importance is the questioning of a sick person. Properly collected anamnesis is already half the success. For example, if the problem concerns children, then the doctor will thoroughly study the data on pregnancy, childbirth, and the period of feeding. Information about the diseases that the baby has had at an early age is also important. The obstetric history also plays a role, which the doctor will also study when making a diagnosis.

By interviewing the parents of a sick child, the doctor learns about their state of health, chronic diseases, age, and even profession. For example, if Down syndrome or another chromosomal abnormality is suspected, the age of the mother matters. The age of the father is important if Marfan syndrome or, for example, Shereshevsky-Turner syndrome is suspected, when a chromosomal disease develops, which is characterized by anomalies in physical development.

If a patient develops rare symptoms of a specific type, then the doctor will in any case suspect the presence of hereditary pathologies.

When a partial or complete dislocation of the lens of the eye is diagnosed, the development of several syndromes can be assumed, in particular Weyl-Marchesani.

Problems relating to sexual development are characteristic of chromosomal diseases.
Enlargement of the liver to a huge size can develop due to galacto-, fructosemia, etc.
Amenorrhea - with Shereshevsky-Turner syndrome.
A sunken bridge of the nose - with mucopolysaccharidosis.
Muscular aplasia of the hands - with Edwards syndrome.

When diagnosing hereditary diseases, anthropometry is performed before prescribing drugs. Head circumference, arm and leg length, weight and height, skull shape, chest volume and other information related to the patient are measured. If chromosomal diseases are suspected, the doctor can apply dermatoglyphics, during which the skin is examined, or rather, patterns on the soles of the feet, palms of the hands and flexion areas of the fingers.

As for paraclinical studies, the whole range of methods is used in the diagnosis of hereditary diseases. Here one can single out immunological, clinical, biochemical, and radiological options. For example, clinical and biochemical methods are indispensable for suspected phenylketonuria and cystic fibrosis.

Immuno- and cytogenetic methods, screening studies are also used.

A century ago, many hereditary diseases were a kind of sentence. But thanks to modern genetics, many diseases of this type can now be treated, that is, they are amenable to complex therapy under the strict supervision of a physician.

Unfortunately, it is impossible to describe in detail the therapeutic principles and lists of drugs for all hereditary diseases in written material, because such diseases are diverse in their clinical manifestations, type of mutations, and other features.

In this case, we can only highlight the general data. For example, genetic diseases, as well as well-studied diseases, are divided into 3 groups according to the type of possible therapy: those requiring symptomatic treatment, etiological and pathogenetic. Only the attending physician can prescribe medications, taking into account the age of the patient, the characteristics of the pathology, the clinical picture of the manifestation of the disease and the presence of concomitant diseases.

Today, pathogenetic therapy is actively formed due to the achievements of biochemical and molecular genetics. Treatment with drugs is carried out by direct intervention in the pathogenesis of the disease.

In any case, the use of drugs for hereditary pathologies is a complex procedure. But such methods of influence in any case should be carried out on an ongoing basis.

There are three types of prevention of hereditary diseases:

Primary prevention is a process aimed at preventing the birth of a sick child. Such prevention includes planning for a healthy pregnancy, the ideal female age for which is between 21 and 35 years.
Secondary prevention is the termination of a pathological pregnancy, in which the disease is diagnosed in the fetus even in the prenatal period.
The tertiary type of prevention is corrective manipulations aimed at the pathological genotype. It is thanks to such actions that it is possible to obtain normalization and a steady decrease in the level of severity of the pathological process. For example, for some diseases, drugs are prescribed even during the period of gestation. Also, a certain effectiveness is demonstrated by the prescription of drugs at the preclinical stage of the development of a hereditary disease.

The most common and effective approach to the prevention of hereditary diseases is genetic counseling. From the point of view of healthcare organization, medical genetic counseling is one of the types of specialized medical care. The essence of counseling is as follows: 1) determining the prognosis for the birth of a child with a hereditary disease; 2) explaining the likelihood of this event to the consultants; 3) assistance to the family in making a decision.

With a high probability of the birth of a sick child, two recommendations can be correct from a preventive point of view: either abstinence from childbearing, or prenatal diagnosis, if it is possible with this nosological form.

The first cabinet for medical genetic counseling was organized in 1941 by J. Neil at the University of Michigan (USA). Moreover, back in the late 50s, the largest Soviet geneticist and neuropathologist S. K. Davidenkov organized a medical genetic consultation at the Institute of Neuro-Psychiatric Prevention in Moscow. Currently, there are about a thousand genetic consultations worldwide.

The main reason that makes people turn to a geneticist is the desire to know the prognosis of the health of future offspring regarding hereditary pathology. As a rule, families who have a child with a hereditary or congenital disease (retrospective consultation) or its appearance is expected (prospective consultation) due to the presence of hereditary diseases in relatives, consanguineous marriage, age of parents (over 35-40 years old), exposure and for other reasons.

The effectiveness of the consultation depends mainly on three factors: the accuracy of the diagnosis, the accuracy of the calculation of the genetic risk, and the level of understanding of the genetic conclusion by the counselors. Essentially, these are three stages of counseling.

The first stage of counseling always begins with the clarification of the diagnosis of a hereditary disease. An accurate diagnosis is a prerequisite for any consultation. It depends on the thoroughness of clinical and genealogical research, on knowledge of the latest data on hereditary pathology, on special studies (cytogenic, biochemical, electrophysiological, gene linkage, etc.).

Genealogical research is one of the main methods in the practice of medical genetic counseling. All studies must be supported by documentation. Information is obtained from at least three generations of relatives in ascending and lateral lines, and data must be obtained on all family members, including those who died early.

In the course of genealogical research, it may be necessary to refer the object or its relatives for additional clinical examination in order to clarify the diagnosis.

The need for constant acquaintance with new literature on hereditary pathology and genetics is dictated by diagnostic needs (several hundred new genetic variations, including anomalies, are discovered annually) and preventive ones in order to select the most modern methods of prenatal diagnosis or treatment.

Cytogenetic examination is used in at least half of the consulted cases. This is due to the assessment of the prognosis of offspring with an established diagnosis of a chromosomal disease and to clarify the diagnosis in unclear cases with congenital malformations.

Biochemical, immunological and other clinical methods are not specific to genetic counseling, but are used as widely as in the diagnosis of non-hereditary diseases.

The second stage of counseling is the determination of the prognosis of the offspring. Genetic risk is determined in two ways: 1) by theoretical calculations based on genetic patterns using methods of genetic analysis and variation statistics; 2) using empirical data for multifactorial and chromosomal diseases, as well as for diseases with an unclear mechanism of genetic determination. In some cases, both principles are combined, i.e. theoretical corrections are made to the empirical data. The essence of genetic prognosis is to assess the likelihood of a hereditary pathology in future or already born children. Consulting on the prognosis of offspring, as mentioned above, is of two types: prospective and retrospective.

Prospective counseling is the most effective type of prevention of hereditary diseases, when the risk of having a sick child is determined before the onset of pregnancy or in its early stages. Most often, such consultations are held in the following cases: in the presence of consanguinity of the spouses; when cases of hereditary pathology have occurred along the line of a husband or wife; when one of the spouses is exposed to harmful environmental factors shortly before the onset of pregnancy or in its first weeks (therapeutic or diagnostic exposure, severe infections, etc.)

Retrospective counseling is counseling after the birth of a sick child in the family regarding the health of future children. These are the most common reasons for seeking advice.

Methodically, the prognosis of offspring in diseases with different types of inheritance differs. If for monogenic (Mendelian) diseases the theoretical foundations for assessing genetic risk are quite clearly developed, then for polygenic diseases, and even more so multifactorial ones, counseling is often based on pure empiricism, reflecting the insufficient genetic knowledge of this pathology.

In mendelian diseases, the task is mainly to laboratory identification or probabilistic assessment in counselors of a certain discrete genotype underlying the disease.

In non-Mendelian diseases, it is currently impossible to isolate specific and discrete pathological genotypes that determine the development of the disease, since many genetic and environmental factors that are nonspecific in their effects can participate in its formation, i.e., the same effect (disease) can be caused different genes and/or environmental factors. This creates numerous difficulties in the genetic analysis of non-Mendelian traits and diseases.

The third stage of counseling is the final one. After making a diagnosis in an object, examining relatives, solving a genetic problem to determine the genetic risk, the geneticist explains to the family in an accessible form the meaning of the genetic risk or the essence of prenatal diagnosis and helps her in making a decision.

It is generally accepted that specific genetic risk is up to 5% low, up to 10% - mildly elevated, up to 20% - medium and above 20% - high. It is possible to neglect the risk, which does not go beyond the limits of an increased mild degree, and not consider it a contraindication to further childbearing. Only a moderate genetic risk is regarded as a contraindication to conception or as an indication for the termination of an existing pregnancy if the family does not want to be at risk.

From a social point of view, the goal of genetic counseling in general is to reduce the frequency of pathological genes in human populations, and the goal of a specific consultation is to help the family decide on the possibility of childbearing. With the widespread introduction of genetic counseling, some reduction in the frequency of hereditary diseases, as well as mortality, especially among children, can be achieved. However, the reduction in the frequency of severe dominant diseases in populations as a result of medical genetic counseling will not be significant, because 80-90% of them are new mutations.

The effectiveness of medical genetic counseling depends on the extent to which the counselors understand the information they have received. It also depends on the nature of the legal laws in the country relating to termination of pregnancy, welfare of the sick, etc.

Content

A person during his life suffers many minor or serious illnesses, but in some cases he is born already with them. Hereditary diseases or genetic disorders are manifested in a child due to a mutation of one of the DNA chromosomes, which leads to the development of the disease. Some of them carry only external changes, but there are a number of pathologies that threaten the life of the baby.

What are hereditary diseases

These are genetic diseases or chromosomal abnormalities, the development of which is associated with a violation in the hereditary apparatus of cells transmitted through reproductive cells (gametes). The occurrence of such hereditary pathologies is associated with the process of transmission, implementation, storage of genetic information. More and more men have a problem with deviations of this kind, so the chance of conceiving a healthy child is becoming less and less. Medicine is constantly researching to develop a procedure for preventing the birth of children with disabilities.

The reasons

Genetic diseases of the hereditary type are formed when the gene information is mutated. They can be detected immediately after the birth of a child or, after a long time with a long development of pathology. There are three main causes of the development of hereditary ailments:

chromosomal abnormalities;
chromosome disorders;
gene mutations.

The latter reason is included in the group of a hereditarily predisposed type, because environmental factors also influence their development and activation. A striking example of such diseases is hypertension or diabetes mellitus. In addition to mutations, their progression is affected by prolonged overexertion of the nervous system, malnutrition, mental trauma and obesity.

Symptoms

Each hereditary disease has its own specific features. At the moment, over 1600 different pathologies are known that cause genetic and chromosomal abnormalities. Manifestations differ in severity and brightness. To prevent the onset of symptoms, it is necessary to identify the likelihood of their occurrence in time. To do this, use the following methods:

Gemini. Hereditary pathologies are diagnosed when studying the differences, similarities of twins to determine the influence of genetic characteristics, the external environment on the development of diseases.
Genealogical. The likelihood of developing pathological or normal features is studied using the person's pedigree.
Cytogenetic. The chromosomes of healthy and sick people are examined.
Biochemical. The human metabolism is monitored, the features of this process are highlighted.

In addition to these methods, most girls undergo an ultrasound examination during childbearing. It helps to determine the likelihood of congenital malformations (from the 1st trimester) based on the signs of the fetus, to suggest the presence of a certain number of chromosomal diseases or hereditary ailments of the nervous system in the unborn child.

In children

The vast majority of hereditary diseases manifest themselves in childhood. Each of the pathologies has its own signs that are unique to each disease. There are a large number of anomalies, so they will be described in more detail below. Thanks to modern diagnostic methods, it is possible to identify deviations in the development of a child, to determine the likelihood of hereditary diseases even during the bearing of a child.

Classification of human hereditary diseases

Grouping of diseases of a genetic nature is carried out because of their occurrence. The main types of hereditary diseases are:

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

List of human hereditary diseases

Science knows more than 1,500 diseases that fall into the categories described above. Some of them are extremely rare, but certain types are heard by many. The most famous include the following pathologies:

Albright's disease;
ichthyosis;
thalassemia;
Marfan syndrome;
otosclerosis;
paroxysmal myoplegia;
hemophilia;
Fabry disease;
muscular dystrophy;
Klinefelter's syndrome;
Down syndrome;
Shereshevsky-Turner syndrome;
cat cry syndrome;
schizophrenia;
congenital dislocation of the hip;
heart defects;
splitting of the palate and lips;
syndactyly (fusion of fingers).

Which are the most dangerous

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

Canavan disease;
Edwards syndrome;
hemophilia;
Patau syndrome;
spinal muscular amyotrophy.

Down syndrome

The disease is inherited when both or one of the parents have defective chromosomes. Down syndrome develops due to trisomy 21 of the chromosome (instead of 2 there is 3). children with this disease suffer from strabismus, have an abnormal shape of the ears, a wrinkle in the neck, mental retardation and heart problems. This chromosome anomaly does not pose a danger to life. According to statistics, 1 out of 800 is born with this syndrome. Women who want to give birth after 35 are more likely to have a child with Down (1 in 375), after 45 the probability is 1 in 30.

acrocraniodysphalangia

The disease has an autosomal dominant type of inheritance of an anomaly, the cause is a violation in chromosome 10. Scientists call the disease acrocraniodysphalangia or Apert's syndrome. It is characterized by the following symptoms:

violations of the ratio of the length and width of the skull (brachycephaly);
high blood pressure (hypertension) is formed inside the skull due to the fusion of coronary sutures;
syndactyly;
mental retardation against the background of squeezing the brain with a skull;
convex forehead.

What are the treatment options for hereditary diseases?

Doctors are constantly working on the problem of gene and chromosome abnormalities, but all treatment at this stage is reduced to the suppression of symptoms, a complete recovery cannot be achieved. Therapy is selected depending on the pathology in order to reduce the severity of symptoms. The following treatment options are often used:

Increase in the amount of incoming coenzymes, for example, vitamins.
Diet therapy. 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 in the patient's condition is immediately observed. For example, with phenylketonuria, foods that contain phenylalanine are completely excluded from the diet. Failure to take this measure can lead to severe idiocy, so doctors focus on the need for diet therapy.
The consumption of those substances that are absent in the body due to the development of pathology. For example, with orotaciduria prescribes cytidylic acid.
In case of metabolic disorders, it is necessary to ensure timely cleansing of the body from toxins. Wilson's disease (copper accumulation) is treated with d-penicillamine, and hemoglobinopathies (iron accumulation) with desferal.
Inhibitors help block excessive enzyme activity.
It is possible to transplant organs, tissue sections, cells that contain normal genetic information.