Deadly marble, what is it?

Osteopetrosis (death marble). Osteopetrosis - what is it?

Osteopetrosis (or marble disease) is a severe congenital skeletal disease, which is characterized by excessive ossification (generalized or local). In most known cases, pathology is inherited. Very rarely the disease occurs in a healthy family.

Pathology was first studied and described by the German doctor Albers-Schoenberg in 1904. In the literature, marble osteopetrosis is also known as congenital systemic osteosclerosis.

In children, the diagnosis is made almost immediately after birth. The disease is severe, and deaths are frequent.

With an easier flow, osteopetrosis is only determined in adulthood and is usually an accidental finding in radiography due to a fracture of the bones.

Causes

For many years scientists can not come to a common opinion about the etiology of Albers-Schoenberg disease.

It is believed that the body starts pathological processes that interfere with the normal absorption of calcium and phosphorus. Serious disturbances in the exchange of minerals lead to the appearance of a disease called osteopetrosis.

What is it and why the mechanism of destruction of bone tissue is activated, it is not possible to find out.

In the first case, pathology is detected already in adulthood and passes relatively easily.

In the recessive transmission of the trait, Albers-Schoenberg disease is diagnosed immediately after birth and proceeds with a large number of complications.

How does the pathology develop?

The pathogenesis of osteopetrosis has not been studied enough. It is assumed that the normal interaction between the bone and hemopoietic tissue is still in utero. Osteoclasts - the cells responsible for the destruction of the skeleton - do not fulfill their function.

As a result, the structure of bones changes, they deform and cease to cope with their task. In addition, the blood supply and innervation of the skeleton is significantly impaired.

Most often affected are long tubular bones, bones of the skull, pelvis and spine.

Classification of osteopetrosis

• Autosomal recessive form (it develops from birth, proceeds with severe complications and frequent fatal outcome).
• Autosomal dominant form (it is revealed in adulthood, has a benign course).

Osteopetrosis - what is it? Symptoms of the disease

With the recessive path of transmission, the first signs of pathology appear immediately after birth. Boys and girls get sick the same way.

The face of the child has a characteristic appearance: broad cheekbones, far-apart eyes from each other. The root of the nose is always impressed, the nostrils are turned outward, the lips are thick.

Soon, progressive anemia and hydrocephalus develop, there is a pronounced increase in the liver and spleen. Very often hemorrhagic diathesis occurs.

The inevitable ending is the multiple defeat of bones. When the process spreads onto the cranial box, the visual and auditory nerves are compressed, blindness and deafness develop.

Osteopetrosis is a fatal process affecting almost all long tubular bones. Most children do not live up to 10 years. Develops purulent osteomyelitis of bone tissue, leading to disability. The cause of death, as a rule, is severe anemia and sepsis.

With the dominant variant pathology is detected in school-age children, as well as in adults. As a rule, the patient does not even suspect that such an insidious disease has settled in his body.

Osteopetrosis is usually an accidental finding in radiography for bone fracture. In many cases, the pathology is completely asymptomatic.

Anemia, as a rule, is not very pronounced, neurological disorders due to compression of nerve fibers are rare.

With mild forms of Albers-Schoenberg's disease, there is no mental abnormality in development.

Very characteristic for this pathology is the later teething, their incorrect development, the tendency to caries.

Low growth at birth is not inherent, the lag in physical development is revealed closer to a year.

Osteopetrosis (death marble). Diagnostics

In the case of early development of pathology, a small patient falls into the hands of doctors in the first months of life. In this case, diagnosis is usually not particularly difficult.

The characteristic appearance of the patient makes it possible to suspect osteopetrosis. At the older age, patients are usually already registered with an orthopedic surgeon due to frequent fractures.

In adults, the clinical picture is smeared, many signs do not appear, which makes it difficult to diagnose.

What is this and what is the meaning of the method? In a specially equipped office, a photograph of the affected area is made in two projections.

Radiographs clearly show the compaction of bones, with the border between tubular and spongy substances absent. The bones are deformed, the metaphyses (areas near the joints) are significantly enlarged.

Usually, the spine, skull and pelvis are involved in the process. The wavy course of the disease provides a transverse striation of the vertebrae and long tubular bones, which is clearly visible on the X-ray.

Treatment of osteopetrosis

Radical healing from this severe disease is not developed. Treatment is mainly symptomatic, aimed at improving the general condition and improving the quality of life.

If the Albers-Schoenberg disease is detected at an early age, the patient can undergo bone marrow transplantation. This is a relative new procedure that allows to save a child's life even in case of severe skeletal lesions.

The earlier the bone marrow transplant is performed, the more chances for a successful outcome of the disease.

To perform the operation, it is required to obtain material from a close relative with whom the patient will show maximum compatibility with HLA-genes.

Otherwise, the bone marrow will not survive, there will be serious complications that threaten the patient's life.

To determine compatibility, special blood tests are performed to determine the similarity of the genome of the donor and recipient.

With a successful outcome of the operation, the structure of bone tissue is gradually restored. There is an improvement in the general condition, vision and hearing are normalized. Transplantation is the only chance for those patients who have not received any visible results from other treatments.

The transplantation of bone marrow stem cells is also a very promising direction for healing from a disease such as osteopetrosis.

What it is? In this case there is a transplantation not only of the organ, but only of individual cells. They take root in the patient's bone marrow and restore normal hematopoiesis.

For the treatment of adults, calcitriol or γ-interferon is used, which normalizes the activity of osteoclasts, thereby inhibiting the process of destruction and compaction of bone tissue. Such therapy can significantly reduce the risk of new fractures, which positively affects the quality of life of the patient.

Complications of osteopetrosis

Frequent fractures of long tubular bones are a problem that sooner or later every patient faces. The hip suffers the most, the injuries to the lower jaw, spine, and thorax are not excluded.

Against the background of the disturbed hematopoiesis process develops purulent osteomyelitis, which is difficult to treat. Expressed deformities of the limbs - the inevitable result of a serious illness called osteopetrosis.

Photos of the consequences of this pathology look dignifiedly scary.

Forecast

The course of the disease largely depends on the age of the patient. In some cases, the development of pathology can suddenly stop and not remind yourself of anything for many years.

In other cases, the disease progresses with severe anemia and frequent purulent infections. The younger the child, the greater the likelihood of serious complications and death.

And, on the contrary, in adulthood the disease manifests itself as much less actively, annoying only by the increased fragility of the bones of the skeleton.

Regardless of the severity of the disease, all patients with a confirmed diagnosis should be observed for life at the orthopedist. An experienced doctor will be able to identify any complications that arise in time and, if necessary, assign additional methods of examination and treatment.

A source: http://.ru/article/192613/osteopetroz-smertelnyiy-mramor-osteopetrozchto-eto-takoe

Marble disease (osteopetrosis)

Marble disease (Albers-Schoenberg disease) belongs to the group of systemic hereditary lesions of the bone system.

In the medical literature, this pathology also occurs under the term osteopetrosis.

The name of the disease is due to the fact that due to a sharp compaction the bone on the cut and on the radiographs resembles marble.

The disease is detected in patients of different ages: pathology is diagnosed in children, in adolescence and adulthood.

Causes

The development of bone tissue (osteogenesis) has its general patterns.

At the stage of embryonic development, after the phase of building a primitive fibrous structure, which is carried out thanks to the function skeletonogenic mesenchymal cells (osteoblasts and osteoclasts), bone tissue is transformed into a functionally complete education.

Normally, the genetically fixed balance between the functions of bone resorption (dissolution) on the part of osteoclasts and its construction by osteoblasts is preserved.

The process of osteogenesis continues throughout life.

Possible abnormalities can arise both at the very beginning of embryogenesis, and after birth, and even in the formed skeleton of an adult.

In marble disease, the number of osteoblasts is normal or slightly increased, and osteoclasts are reduced.

In some cases, osteoclasts may not form at all.

Because of this, the intermediate tissue begins to accumulate an excessive amount of mineral salts, the balance of which is significantly impaired.

Bone substance is constantly being produced by osteoblasts, but it does not replace old bone elements, but gradually layers on them. This leads to a sharp narrowing of the medullary cavity, a tightening of the structure and a functionally disordered architectonics of the bones.

The basis of osteopetrosis is a violation of the process of ossification, which is manifested in the fact that an increased amount of compact bone substance begins to be produced.

In damaged areas, there are ischemic disorders. Bones, in spite of excessive ossification, become more fragile, pathological fractures poorly fuse.

Symptoms

The main symptoms that are likely to indicate the development of marble disease are associated with a violation of the bone system, namely the structure of bone tissue.

These deviations can only be determined by X-ray examination.

The basis for conducting radiation diagnosis is the presence of a unique clinical picture:

• In case of marble disease visually, children may experience delays in general physical development: low growth as compared with peers, the child later begins to walk independently, there may be signs of hydrocephalus, an increase in lymph nodes. When palpation, the internal organs go beyond their normal anatomical boundaries (enlarged). This, in the first place, refers to the liver, which is well palpated under the edge of the costal arch.
• Due to osteosclerosis, the lumens of the bony canals, in which the nerve bundles pass, narrow, which is symptomatically manifested at the level of various systems of the body.

For example, due to compression of the optic nerve in patients with osteopetrosis, there is often a sharp deterioration, or even loss, of vision; nystagmus; paralysis of facial muscles. And because of deformation of the osteal labyrinth of the inner ear, hearing damage can occur.

• Later teething. Teeth do not just appear late, but they are also fragile, they are affected early by caries. The course of marble disease can be complicated by osteomyelitis of the lower jaw.
• Pathological fractures. Fractures occur in adolescence or adulthood, after a mechanical trauma or increased stress on the bone. Localized mainly in the neck of the femur.

It is the presence in the anamnesis of pathological fractures in childhood and adolescence often indicates the possible presence of marble disease.

• Increased fatigue, especially when walking, running or just during exercise.
• Anemia. The degree of anemia depends on bone changes, which can be studied by X-ray examination. The more intensive the formation of bone substance, the already becomes the medullary cavity. There are light, benign forms of anemia (in the case of anomalies) and severe, malignant (when there are developmental defects). Violated as erythro and leukopoiesis (a violation of the formation of erythrocytes and leukocytes, which occurs in the bone marrow).

From the side of the blood formula the following changes are found:

• erythropenia (reduction of erythrocytes);
• anisocytosis (increased content of red blood cells of different sizes);
• poikilocytosis (change in the form of erythrocytes);
• shift of the leukocyte formula to the left, sometimes up to normoblasts.

The clinical manifestations of marble disease are not absolute allegations, on the basis of which the diagnosis of osteopetrosis is made. But it is they who make you alert and conduct a comprehensive radiographic examination of the bone system.

Radiation diagnosis of marble disease

X-ray symptomatology with this disease is quite specific, but thanks to it, the marble disease was described and systematized.

The bones of the skull, pelvis, femoral and tibia, vertebral column and ribs are most often affected.

X-ray signs: depending on the zones of the endochondral ossification, there is a markedly increased compaction of bone tissue.

• In the case of a light course of marble disease (with frequent remissions), strips of a densified structure are noted on the roentgenogram, alternating with strips of spongy substance.

The bands repeat the direction and shape of each zone:

• In the metaphyses of the bones that form the knee joint, they are located transversely.
• In the proximal metaphysis of the humerus - in the form of a triangle.
• In the iliac wings, branches of the pubic and gluteal bones are arcuate.
• In the bodies of the vertebrae, under the closing plates, two characteristic densified strips are formed. The spongy structure in the central part of the vertebra remains.
• In the vault of the skull, and sometimes in its base, there are signs of sclerosis.
• In severe marble disease, remission does not occur, therefore only a dense, functionally inferior, structureless bone substance is formed. The spongy structure and the cerebral cavity are not preserved, because of which the volume of the blood-forming bone marrow decreases sharply, and hypochromic anemia is rapidly developing.

For marble disease, a characteristic feature is only the consolidation of the structure of bones without changing their shape.

Sometimes the metaphyses of long bones (by cartilaginous cells, which do not degenerate and retain their growth potential) are bottle-shaped.

In addition to sclerosis, the thickness of the bones can also increase at the base of the skull due to hyperostosis.

In this case, the apertures of the skull narrow, the function of the corresponding cranial nerves is disturbed.

Almost always on the roentgenogram there is no lumen of the intraosseous canal (where the bone marrow is normally located).

It should be noted that not always marble disease occurs with pronounced clinical symptoms. There is an asymptomatic form, and the diagnosis is made only after the X-ray study, often conducted on other indications.

Asymptomatic form is characteristic for patients in adulthood. If a marble disease is suspected, special attention should be paid to collecting a hereditary history, since the disease is genetic and transmitted from generation to generation.

To clarify the degree of the process, it is necessary to conduct radiation diagnostics with highly sensitive methods: computer diagnostics (CT) magnetic resonance imaging (MRI) and radioisotope studies, which will help to more accurately determine the level of bone sclerosis.

Treatment

Tactics of treatment means activities aimed at correcting muscle and bone tissue, as well as to combat associated pathologies.

Treatment of marble disease - a long, the main goal of therapy is to strengthen and build up neuromuscular fibers, which in this case serve to protect bone tissue from mechanical damage. It is performed on an outpatient basis, under the guidance and supervision of a physician.

The most effective methods are:

• special massage courses;
• swimming;
• complexes of therapeutic gymnastics.

Correction of nutrition is of great importance in the complex treatment of marble disease. The menu should include the maximum number of dishes containing vitamins of natural origin: fruit and vegetable salads, fruit and juice, sour-milk products and cottage cheese.

Sanatorium treatment (especially in childhood) allows to some extent stabilize the condition and prevent deterioration of the patient's condition.

Clinical treatment for today is not able to correct the process of formation of bone tissue, therefore, the main therapeutic measures are aimed at the treatment and prevention of complications associated with disease:

• prevention of the development of anemia with the help of pathogenetic therapy, which stimulates the natural protective "reserves" of the organism in the fight against pathological conditions;
• supervision and regular consultations of an orthopedist for prevention of fractures and development of bone deformation.

The most promising method of treating marbled disease today is bone marrow transplantation from donor to the recipient or autoimplantation, when the bone marrow is taken from the patient himself from another, not affected by the disease site.

However, this method is quite expensive, is in the testing stage, the results are clinically tested. Therefore massively it is not applied yet.

In addition, transplantation is most effective if the main complications of osteopetrosis are disorders of blood circulation in the bone marrow of a patient.

In other cases, this method is not very effective and is not recommended for use.

If in adulthood the treatment of marble disease often does not bring the desired result (although with late diagnosis the disease as usually, does not cause much discomfort), then the children manage to achieve positive dynamics, which makes it possible to improve the quality of life of small children patients.

The tactics of treating marbled disease in childhood:

• Hormonotherapy.
• Vitaminotherapy.
• Application of interferons.
• Fighting anemia.
• Surgical intervention in pathological fractures.

All these methods of treatment are aimed at stopping the progression and aggravation of the disease. Most often it works out, and the patient is comfortable enough with this disease.

In the absence of adequate therapy - the forecast is unfavorable: the disease progresses, affects the organs and systems and can lead to death, especially in childhood.

Which doctor heals

If you suspect a marble disease, you need to get advice from several specialists.

• First, since this is a hereditary disease, you need an examination of a geneticist who will determine the causes of the illness.
• Secondly, it is mandatory to conduct radiation diagnosis of the bone system. Such studies are conducted by radiologists.

The pathology of the bone system itself is practiced by trauma surgeons, so they perform moderators determine the necessary scope of consultations and key methods for effective treatment. Be healthy.

A source: http://www.knigamedika.ru/vrozhdennye-anomalii/deformacii-kostej/mramornaya-bolezn-osteopetroz.html

Marble disease (osteopetrosis)

Of a huge number of various human diseases, a group of congenital pathologies that affect the formation of bone structures is distinguished.

One of them, affecting the bone tissue and simultaneously affecting the functionality of other internal organs, is osteopetrosis.

The frequency of osteopetrosis is approximately the same in all countries and is 1 case of the birth of an infant with this pathology by 150-200 thousand healthy babies. However, in Russia there are some regions (Mari-El, Chuvashia), where the marble disease is registered somewhat more often.

Causes and mechanism of development

Osteopetrosis is expressed by a significant compaction of bone tissue and is the result of an imbalance in the processes of its formation.

To form a normal bone structure, simultaneous activity of two types of cells is necessary: ​​osteoblasts and osteoclasts.

The first cells, as well as their "descendants osteocytes, in fact, are the structural elements of the bone, and their number and properties determine its density and hardness.

Osteoclasts are also required to participate in the regeneration of bone tissue and are responsible for the timely destruction of damaged or "obsolete" osteoblasts and osteocytes.

The work of these cells with various functions is regulated at the genetic level; scientists have identified at least three relevant genes in human DNA.

Their balanced activity ensures the formation of the infant's bone intrauterine stage, its development and growth as a person grows up, the regeneration of bones after injuries or diseases.

The balance between the activity of osteoblasts and osteoclasts makes it possible to create a certain structure of bone tissue, which has a characteristic combination of cells and the intercellular matrix.

The bone structure in osteopetrosis becomes denser and resembles marble

Osteopetrosis is congenital and, moreover, hereditary disease. This confirms the more frequent development of pathology in families, where it has already been observed in other relatives.

Therefore, although the nature of the disease is not completely investigated, in its etiology (causes) and pathogenesis (mechanisms of development) the genetic factor plays a leading role.

To date, it is accurately known that the "failure" in the work of the gene responsible for the production of the enzyme carbonic anhydrase is clearly one of the reasons for the formation of marble disease.

With a deficiency of this enzyme, the osteoclasts become insufficiently active, and their number is no longer so important. It can be normal, reduced or increased.

As a result, the most important balance between osteoblasts and osteoclasts is broken, and the bone tissue begins to expand, become denser and change its structure.

It becomes so dense that on a cut it is very similar to marble, why one of its names went.

But the increased density does not give it additional strength. On the contrary, the bones become brittle and brittle, especially the femur.

Thanks to this, all fractures coalesce well, in normal times or slightly more slowly.

Marble disease is often detected in relatives

The increased activity of osteoblasts is dangerous not only in terms of increasing the fragility of bones. Excessive growth of bone tissue leads to the fact that the channels in which the bone marrow is located are gradually "closed".

And it weighs heavily on hemopoiesis (hemopoiesis), slowing and breaking it, which begins to be expressed by certain clinical signs. But the body seeks to compensate for the loss of such important foci of hematopoiesis as the bone marrow.

As a result, additional foci of hemopoiesis are formed, located in other internal organs. First of all, in the spleen and liver, then in the lymph nodes.

These processes also have a certain clinical "reflection in particular, manifested by an increase in the size of these organs.

How is the disease manifested?

It is important to note that the concept of osteopetrosis includes several forms of pathology that occur unequally and have a different prognosis. They can be represented as follows:

• forms of the disease with functional abnormalities, expressed slightly, with a favorable prognosis;
• progressive forms that ensure osteopetrosis is fatal if pathology is detected in a newborn child;
• Forms with early onset of signs of the disease;
• cases with late formation of a clinical picture.

A small child begins to lag behind in growth; The older it becomes, the lag is expressed more significantly.

In addition, signs of anemia, increased bleeding, light bruising, liver and spleen suffer, infectious complications are added.

Unfortunately, without radical treatment such babies are doomed to death, the lethal outcome comes in the first year of life.

More frequent and favorable is the marble disease in older children, adolescents and young people.

There are cases when it occurs at all without clinical manifestations, and an increased density of bone tissue is detected only with an X-ray examination.

However, more often still the clinic is present, although it is expressed unequally in different patients.

Therefore, the main clinical signs of marble disease can be expressed as follows:

We advise you to read: osteosclerosis

• appearance of symptoms of anemia (increased fatigue and weakness, worsening appetite, paler color shade of the skin and mucous membranes, characteristic changes in the analysis of blood);
• gradual increase in the spleen, liver, and some lymph nodes;
• the appearance of deformations of the supporting apparatus or facial skeleton due to the growth of bone tissue;
• incorrect bite due to abnormal growth of teeth, delayed eruption, extensive caries;
• compression of the nerve trunks with an overgrown bone, which leads to paralysis, paresis, loss of sight or hearing;
• An obstacle to normal circulation of the CSF in the canal of the spinal cord and in the brain, which can cause hydrocephalus.

As can be seen from these symptomatic complexes, osteopetrosis does not have sufficiently specific clinical signs. So, anemia is also found in many other diseases, the same can be said about the increase in lymph nodes or liver. Therefore, congenital osteosclerosis must necessarily be differentiated with such pathologies as parathyroid gland diseases (hyperparathyroidism), hypervitaminosis D (vitamin D overdose in children of the first year of life), lymphogranulomatosis, Paget's disease, metastasis of malignant neoplasms. A very large role in differential diagnosis belongs to additional laboratory and instrumental methods.

Increased fatigue is one of the signs of anemia

Diagnostics

At the initial questioning of the patient, his complaints are clarified, the history must be specified, in which the presence of cases of familial osteosclerosis can be of great importance.

The doctor notes such signs as pallor of skin and mucous membranes, dysplasia, bone deformities, tendon reflexes, the state of vision and hearing.

Then additional diagnostic methods are assigned:

• a clinical blood test;
• a biochemical blood test;
• X-ray examination;
• MRI or CT scan.

In the study of blood, the presence of hypochromic anemia is revealed, which is indicated by a decrease in the amount of hemoglobin, red blood cells, color index. In biochemical analysis, the level of calcium and phosphorus is determined.

The results of an X-ray examination are very revealing. In the pictures, the bone tissue looks very dense and has a uniform white color, without signs of the presence of channels or openings for blood vessels and nerves.

MRI helps to finally diagnose osteopetrosis, determine its shape and stage

To determine the state of bone structures more accurately and to determine the stage of the disease, magnetic resonance imaging or computed tomography is assigned. These types of studies allow you to "see" the bone layer by layer, assess the rate of progression of the marble disease, its danger and prognosis for the patient.

Is it possible to cure osteopetrosis

Given that this disease is caused by malfunctions at the genetic level, it is completely impossible to cure it, Modern medicine has not yet developed etiotropic, that is, affecting the cause of pathology, methods therapy.

Therefore, the treatment of marble disease is aimed at slowing the pathological processes in bone tissue, suppressing excessive formation of osteoblasts, restoring the functionality of osteoclasts, and also aims to normalize blood formation and get rid of other symptoms disease.

The therapeutic approach is always complex, as the disease in each patient proceeds in an individual form and with its own characteristics.

If the patient is diagnosed with a progressive form of pathology, the success of therapy can only be provided by a radical method, namely bone marrow transplantation.

However, this method is ambiguous and can not always heal the patient, which is explained by very diverse factors. In addition, there may be difficulties in the selection of an ideally suitable donor.

The use of a variety of dairy products with marble disease is mandatory

When more favorable forms of the disease are identified, medicinal preparations with different mechanisms of action are included in the therapeutic complex. Among them, the following medicines should be noted:

• corticosteroids;
• preparations containing iron, calcium, phosphorus;
• interferons;
• vitamin D;
• erythrocyte mass for transfusion.

To treat osteopetrosis follows the observance of a diet that provides for a diet rich in calcium, proteins and vitamins.

For this, the patient must eat fresh vegetables and fruits every day, dairy and sour-milk products, meat and fish.

In addition, it is necessary to conduct courses of physiotherapy, massage, physiotherapy methods. It is desirable to have a regular spa treatment.

If the background of the marble disease occurred a fracture of the neck of the hip, then an osteosynthesis operation is performed. With expressed bone deformities, corrective surgical interventions are shown.

If the pathology is complicated by osteomyelitis, an operation is performed to remove the necrotic masses and excision of the fistulous course, which is complemented by the introduction of antibiotics and detoxification activities.

Patients suffering from osteopetrosis should be treated for life. Only in this way can the progression of the disease and the development of complications be avoided, and also make a prognosis for life favorable.

A source: http://MoyaSpina.ru/bolezni/mramornaya-bolezn-osteopetroz

Marble disease

Osteopetrosis(marble disease, congenital osteosclerosis, hyperostotic dysplasia, Albers-Schoenberg disease) - severe genetic ailment, in which the bone tissue of the tubular bones, pelvis, bones of the face and the spine.

In this case, the bones become unnaturally heavy and dense, and the "marble" disease is called because the bone cut is uniform and smooth, like marble. In pathoanatomical research, the bone is sawn with great difficulty, but it is very easy to split, exposing the smooth, "marble" surface of the cleavage.

At histological examination of a cut of a bone tissue, are found out, as disturbance of density of bone fabrics, and increase in weight of bones. Frequent fractures in osteopetrosis are due to the inability of dense bones to keep the weight of the entire body. The early form of osteopetrosis is characterized by high mortality among small patients. Infantile osteopetrosis, if not treated, 2-3 years after the debut of the disease, ends with a fatal outcome.

What causes osteopetrosis?

Excessive compaction of bones is caused by a genetic anomaly. It is assumed that three genes participate in the development of this rare disease. These genes are responsible for the formation and utilization of bone cells, as well as for some stages of hematopoiesis.

Bone tissue in the human body consists of two types of cells: osteoblasts (of which cells of bones) and osteoclasts (responsible for the destruction of obsolete bone cells, that is for resorption). With marble disease, the osteoclastic link in this process is broken, it is believed that this is guilty lack of carbonic anhydrase (a specific enzyme that regulates bone degradation) in osteoclasts.

The result of this pathology is excessive accumulation of bone tissue, its compaction, since no recycling of old cells occurs. At the same time, the bones undergo deformations, experienced by important vessels and nerves, which often leads to death.

Congenital osteopetrosis is observed, mainly, in relatives. It rarely occurs in families where no one suffers from them.

The spread of the disease is the same throughout the world and does not exceed one case per 100-200 thousand newborns.

The exception is Chuvashia, where for , 00-, 00 newborns there is one case of osteopetrosis, and Mari El, where one sick child is born to 1, 00 healthy.

Types of osteopetrosis

Early form (autosomal recessive, ARO - malignant form of osteopetrosis. It is usually diagnosed before the year, it is very difficult, in most cases, the outcome is lethal. Life expectancy without bone marrow transplantation can reach 2-3 years.

Late form (autosomal dominant, ADO - benign form of osteopetrosis. It is found in adolescents or adults, most often accidentally, with X-ray examination. The course of this form of marble disease is benign, in most cases - asymptomatic.

Symptoms of osteopetrosis

Ingestive form of osteopetrosismanifested immediately after the appearance of the baby in the light. The disease affects equally often the children of both sexes.

Pediatricians can observe the following symptoms in the child: wide-set eyes, too wide cheekbones and other deformities of the skull, thick lips and outstretched nostrils. Often there is a "squashed" base of the nose.

Infants with a diagnosis of osteopetrosis are rapidly developing hydrocephalus and anemia. Older children quickly get tired, their legs weaken and do not hold the body.

Skin covers are pale, growth is unnaturally small, there is a gap in mental development. Almost all teeth are affected by tooth decay. Because of the compression of the optic nerve, vision is impaired (right up to blindness).

Internal organs "deadly marble" also does not spare, with the disease, the liver, spleen and lymph nodes increase. Auditory and optic nerves suffer to the extent that deafness and blindness develop. Death in osteopetrosis comes from sepsis or from anemia.

Late form of osteopetrosisusually characterized by a benign course. In adolescents or adults, the disease is usually accidentally detected on a radiograph with frequent fractures.

Early diagnosis is necessary, since the destruction of bones occurs without visible symptoms, a person may not suspect that he is sick.

Diagnosis of osteopetrosis

To diagnose osteopetrosis and predict the results of treatment, the following methods are used:

- blood test for anemia;

- X-ray for detecting changes in bone tissue (in the pictures, dense bones are represented by dark spots);

- MRI and CT to determine the extent of bone tissue damage;

- biopsy of bone tissue;

- genetic analysis to predict the success of treatment.

Is there a treatment for osteopetrosis?

In osteopetrosis of early development, the only method of treatment is bone marrow transplantation. Over the past few decades, bone marrow transplantation has saved the lives of hundreds of previously doomed children.

For bone marrow transplantation, a material taken from a close relative or donor appropriate for all standard parameters, otherwise the transplanted bone marrow may not settle down, and hopes for healing are not will remain.

Unfortunately, bone marrow transplantation only hinders the further development of the disease, but does not eliminate the harm already done to the body, so it should be carried out as soon as possible.

The most favorable prognosis in the treatment of osteopetrosis in Israel, with bone marrow transplantation at the age of six months.

As an auxiliary therapy for osteopetrosis, medicines and vitamins are used.

Calcitriol(active form of vitamin D) - stimulates osteoclasts and prevents bone compaction.

Interferon Gamma- possesses simultaneously several functions: stimulates the work of leukocytes, thereby increasing, immunity of the child; reduces the volume of spongy bones; improves blood counts (hemoglobin and thrombocytes). The best effect is achieved when combined with calcitonins.

Erythropoietin- is used to treat anemia.

Corticosteroids- Steroid hormones, which prevent the compaction of bone tissue and the development of anemia.

Calcetonin- peptide hormone, which in large doses improves the condition of the child, but the effect remains only at the time of taking the drug.

Important for strengthening the neuromuscular tissue and maintaining the state of the child are: physiotherapy and rehabilitation, a balanced diet, supervision of an orthopedist, regular sanitation of the mouth.

Prevention of marble disease

If one of the relatives had such a diagnosis, then the probability of developing osteopetrosis in a child can not be ruled out.

Modern Russian medicine has technologies that after 8 weeks of pregnancy reveal the ailment of the fetus. This allows parents to decide on the termination of pregnancy.

The most progressive methods of preventing osteopetrosis in a future child are genetic tests that make it possible to predict a disease in a child even before pregnancy.

A source: http://osteopetroz.ru/mramornaya-bolezn/