Osteopetrosis (deadly marble). Osteopetrosis - what is it? Marble disease

Osteopetrosis is a bone disease better known as marble disease. Osteopetrosis is a fairly rare occurrence. The causes of this disease have not been adequately studied. The number of studies on it is also insufficient today. But it is possible to recognize and stop the development of the disease based on existing data.

Reasons for development

Osteopetrosis develops with early age, it is caused by a genetic mutation. This congenital pathology. Parents may not suffer from this disease, but pass on their gene by inheritance, and the child will suffer from early years. Genes responsible for protein synthesis and ensuring the functioning of osteoclasts undergo mutations during the disease process. Such data were obtained from examinations of people who are sick with marble disease. It was found that genes that have undergone mutation do not produce the necessary protein at all or in insufficient quantities. Pathology leads to the accumulation of calcium hydroxyapatite. As a result, the mineral component of the bones increases, and the organic and bone marrow portion decreases.

Due to excessive compaction, bones significantly lose their elasticity and begin to break frequently. People with marble disease are characterized by increased bone fragility and pathological fractures. These fractures are different from normal fractures of healthy bones. Typically, marble fractures occur in uncharacteristic areas of the skeleton. The ratio is also unnatural mechanical impact on the bone and the consequences of injury. There are frequent cases of fracture of the femur, although in the body healthy person they are among the most durable and resistant to injury.

During osteopetrosis, bone tissue constantly grows, so the gaps between small bones become overgrown. This unnatural phenomenon provokes disorders in the skeleton and also increases fragility.

The first symptoms indicating the presence of marble disease in an adult or in children manifest themselves in different ways. Already in early childhood the child exhibits some abnormalities in physical development. Outwardly one can note pallor and lethargy. Internal organs(liver, spleen) and lymph nodes enlarge.

A violation occurs normal development skeleton. This entails a number of deviations in the form of deformation:

• spine;
• chest;
• skulls

The process of unnatural growth of the skeleton also provokes some other phenomena. Among them are paralysis and even blindness. This is due to the fact that the nerve trunks are compressed by bone tissue.

At the beginning of the development of osteopetrosis, the child may complain of pain in the limbs and quickly get tired when walking. External changes become noticeable - changes in the facial and brain skull, slow growth (low compared to peers). The hip bones also become deformed, causing the legs to become rounded from the inside. In the youngest children, teeth erupt with a delay. Before a possible complete loss of vision, you should pay attention to its fall. Visual impairment is one of the symptoms of marble disease. Against the background of such physical abnormalities, shortcomings in mental development also appear.

All of the above symptoms are outwardly pronounced. But if they are absent, this does not mean that the development of osteopetrosis is impossible. A second form is possible - hidden, which develops without visible signs. The disease affects people of both sexes and all ages. In this situation, osteopetrosis can be detected completely by accident. For example, when medical examination on x-ray. If marble disease is suspected, laboratory tests and other thorough examinations of the patient are performed.

Diagnosis of marble disease

The most informative tool in determining the presence of marble disease is x-ray.

After all, if there is a gap, the skull, spine and bones of the limbs will be opaque. This means that the bone tissue is significantly compacted. This disease is called marble for two reasons:

• when fractured, the structure of the bone is so uniform and smooth that it resembles polished marble;
• transverse enlightenments found at the ends of tubular bones resemble marble in appearance.

A blood test can also confirm the diagnosis. The indicator is an increased level of leukocytes and the appearance of normoblasts.

Treatment of pathology

There are no medications or treatment programs that can completely eliminate osteopetrosis. But early detection diseases in children, correct physical activities and nutrition allow you to control the progress of the disease.

The treatment process includes systematic massage sessions, physical therapy, gymnastics and swimming. If necessary, orthopedic correction is prescribed.

The patient's diet should be rich natural products, vegetables and fruits should become predominant in the diet.

A radical invasive method of treating marble disease is a transplant bone marrow. This treatment is considered quite effective.

Additional sources:

- Diagnostics rheumatic diseases. Reutsky I. A. Marinin V. F. Glotova A. V. 2011;

Osteopetrosis is complex disease bone tissue, at which its compaction is observed. The disease manifests itself from birth and is quite severe. The disease was first described by Dr. Schoenberg in 1904. In this case, the bone tissue develops abnormally and becomes very heavy. On the cut you can see a characteristic marble pattern, which is why the disease bears the same name.

The disease is quite rare. Despite the fact that marble disease is characterized increased density bones, they are very fragile. This is due to destructive processes due to disruption of hematopoietic processes in the bone marrow.

What is a disease

If in a healthy body the cells responsible for the formation of bone structures are in balance with osteoclasts, which, on the contrary, have a destructive effect, then with osteopetrosis everything is completely different. Marble disease caused by mutations in three genes.

In this case, there is a lack of the enzyme responsible for the production of osteoclast cells. Albers-Schönberg disease is dangerous because dense structures displace the bone marrow. This leads to a number of serious consequences. The main ones:

• thrombocytopenia;
• enlarged spleen and liver;
• anemia;
• defeats lymphatic system.

Death Marble has characteristic symptoms. The disease often manifests itself with fractures, which is why it has this name. When the visual apparatus is compressed by bone structures, blindness can occur.

The early form of the disease, unfortunately, is fatal. In this case, a malignant process develops that cannot be cured.

The late form appears already at an older age. The diagnosis is made based on x-rays. In the presence of an early form of the disease, pain syndrome. The discomfort is especially pronounced when walking. Bones may become deformed. The prognosis is extremely unfavorable. The person feels unsatisfactory and gets tired quickly.

A person with Albers-Schönberg disease can be identified by their pale skin and short stature. Children often lag behind their peers in both mental and physical development. Diagnostics often reveals the presence of extensive dental caries. Juvenile osteopetrosis also manifests itself as deformation of the skull and other bones.

Diagnosis of pathology

The disease often causes bones to break even under their own weight. Diagnosis is based on comprehensive research which includes:

1. Blood analysis. It can detect a decrease in hemoglobin, which allows you to diagnose anemia. This disease always accompanied by marble pathology.
2. Determination of phosphorus and calcium levels in the blood. If the number of such elements is reduced, this indicates the presence of destruction processes in bone tissue. IN childhood this process indicates marble disease.
3. X-ray examination. It is one of the most reliable methods in this case. At the same time, changes in the structure can be seen in the photographs. The canal containing the bone marrow is not visualized.
4. MRI and CT. Allows you to examine the condition of the bone in detail. Magnetic resonance imaging provides detailed information about each layer. In this case, the degree of damage is determined.

Recessive osteopetrosis and other forms of the disease are quite severe, and symptoms appear over time. The causes of the pathology are currently not fully understood. However, there is an opinion about the influence of a hereditary factor. The causes of illness in children are often associated with serious pathologies that the parents may have suffered. These also include congenital diseases. The connection between the etiology of the disease and these factors has not yet been proven.

Treatment and lifestyle

Complete relief from the disease is only possible through transplantation. Others effective methods There is currently no treatment. However, auxiliary methods of therapy aimed at stopping the pathological process in bone structures can slow down the development of the disease and improve the quality of life.

It is important for patients with osteopetrosis to regularly perform a special set of exercises that will improve the general condition of the musculoskeletal system. Additional healing effect provides massage. Swimming and proper nutrition will also help.

It is important that your child consumes as much protein as possible. To do this, you should include cottage cheese, cheese and other products in your diet. An adequate supply of fresh fruits and vegetables is necessary.

Visiting sanatoriums also gives good results. Unfortunately, to warn a child against developing such dangerous pathology impossible. If close relatives have such a pathology, then it is important for a pregnant woman to undergo a special diagnostic test already in the 8th week after conception.

It is possible to save children with a malignant form of the disease only if surgical intervention. However, the risk fatal outcome very high. The prognosis of bone marrow transplantation is controversial, since this method is still being studied and does not have a clear algorithm.

Children with such a complex disease should get more rest. Physical and mental stress should not be allowed. It is advisable to visit your child more often fresh air. In adults, the pathology often has a benign course. Sometimes it does not manifest itself at all, so it is discovered by chance. There may be no pain at all.

If a child has an enlarged liver and spleen due to illness, it is recommended to follow an additional diet. The amount of fat needs to be reduced. Freshly squeezed juices should be included in the diet of a sick child. Adults also need to adhere to proper diet, monitor your weight so as not to provoke the appearance of symptoms. IN severe cases Treatment of the disease is carried out in a hospital.

Marble disease (also known as osteopetrosis) is a disease that belongs to a group of genetic bone lesions. The name of this pathology arose due to the fact that in a section and x-ray images, the bone damaged by gourami osteopetrosis resembles marble. Deadly marble (ICD 10) can occur in patients of all ages, but most often the disease is diagnosed in children.

Causes of the disease

The main reasons causing osteopetrosis in gourami are impaired metabolism of calcium and phosphorus in the body. Connective tissues participate in the formation of many systems and organs in the human body, but they are not responsible for the functioning of these organs. When marbled gourami occurs, the tissues acquire an unusual function - retaining salts, which causes sclerosis to begin in the affected areas.

Today there is no exact explanation why such a failure occurs in the functioning of connective tissues. Also, the causes of the disease have not been established. But three genes were discovered that can block the protein when mutated, but they are responsible for osteoclasts, because it is osteoclasts that are responsible for aseptic necrosis (destruction) of bones. After mutation, the proteins cease to take part in osteosynthesis, resulting in marble disease (ICD 10).

Experts suggest that marbled gourami disease may have genetic predisposition. And research results confirm that this disease most often occurs in relatives.

Manifestations and symptoms

The compaction that occurs in the bones gradually displaces the bone marrow. As a result, thrombocytopenia, anemia, aseptic necrosis, and a hematopoietic process outside the bone marrow begin in adults and children - in the liver, spleen, nodes of the lymphatic system, causing an increase in these systems and organs.

People with marble disease (ICD 10) experience increased bone density and, at the same time, fragility, as well as necrosis, which leads to fractures (fractures of the femur are the most common).

Symptoms of the disease

• In children, due to the fact that the jaws are sclerotic, there is a disturbance in the development and eruption of teeth.
• In sick people, osteopetrosis provokes the appearance of caries.
• Pain in the limbs.
• Fatigue while walking.
• Pathological bone fractures and aseptic necrosis.
• Hypochromic anemia, as a result of sclerosis of the cavities in which the red bone substance responsible for the hematopoietic process is located.
• Enlarged liver, spleen and nodes of the lymphatic system.
• Deformation of the jaw bones, skull and sternum.
• Hydrocephalus may occur in one-year-old children. This deviation leads to the fact that the child has delayed development.
• Possible visual impairment due to compression optic nerve in the affected canal.

Signs of the disease

Marbled disease (marbled gourami disease) by degree of development pathological abnormalities is divided into two forms.

Osteopetrosis in its early form is more common in children. The disease is characterized by delayed development of the bones and jaw, as well as other pathologies, such as necrosis, which can be fatal.

The late form of the disease usually manifests itself at a fairly mature age. A disease such as marbled gourami occurs without obvious symptoms. It can only be determined using radiology.

It should be noted that in bones that were affected by marble disease in the early stages, appearance does not change. But as the disease develops and the pathology worsens, deformation processes and necrosis occur.

Diagnostics

To find out the causes of a disease such as marbled gourami, several diagnostic methods are used:

• Collection of family history (collection of information and examination of the closest relatives is carried out).
• X-ray examination, and, if necessary, radionuclide examination. If a person has marble disease, then there are compactions in the bones that are not transparent to X-rays.
• Blood biochemistry, which is required to determine the level of calcium and phosphorus ions, as well as general analysis blood.
• MRI and CT, which make it possible to study the affected bones layer by layer to determine the degree of sclerosis.
• Prenatal diagnosis.

Treatment methods

To date, there is no pathogenetic therapy that can cure osteopetrosis completely.
At the same time, specialists carry out symptomatic therapy, which helps strengthen the nervous and muscle tissue, as well as the bones of the jaw, limbs, sternum, etc.

Experts advise people diagnosed with marbling disease to eat foods containing a large number of vitamins (freshly squeezed juices, vegetables, fruits, dairy products). In addition, they are sent to physical therapy and massage, as well as spa treatment. If aseptic necrosis is observed, then preparations containing iron are prescribed. IN critical cases operations for transfusion of red blood cells are performed.

If bone fractures occur, then classic measures and operations are carried out:

• reposition;
• plaster application;
• skeletal traction;
• endoprosthetics hip joints with a fracture of the femoral neck;
• When the bones of the leg are affected, an osteotomy is performed.

If preventive measures have been taken and necessary treatment If complications are at the proper level, then the disease has a positive outcome. The exception is malignant forms, which result in necrosis of myelogenous tissue.

Anemia, aseptic necrosis or septicomemia, which arise due to a serious fracture of the jaw bones, limbs, sternum or single-gene inflammation, can lead to death.

The most effective way The treatment for a disease such as marbled gourami is bone marrow transplantation.

Preventive actions

Prevention of marbled gourami has certain specifics. You need to remember: if there are relatives who have such a disease, then the likelihood that the child will inherit it is very high. There are special diagnostic methods that allow you to determine the presence of the disease in the womb. They are not preventive measures, but they provide a choice for couples who are planning to have children.

TO preventive measures This includes constant monitoring by an orthopedic surgeon, who monitors the presence of abnormalities and refers to corrective osteotomy operations. Osteotomy is a procedure that improves the functioning of the musculoskeletal system through artificial fractures, which allows the bones to occupy an optimal position.

Albers-Schoenberg)

a disease in which an increased amount of compact substance is produced in most bones of the skeleton, combined with the development of dense bone tissue in the medullary canals.

The disease was first described by the German surgeon Albers-Schönberg (N.E. Albers-Schönberg) in 1904. It is rare. Compared to other diseases accompanied by hyperostosis , described in most detail (more than 300 cases).

The etiology is not clear. The disease belongs to the group of mesenchymal skeletal dysplasias. It is characterized by profound changes in phosphorus-calcium metabolism. The increase in the amount of compact substance is associated with the ability of the mesenchyme to retain a larger than normal amount of salts. An excess amount of sclerotic tissue develops in the zones of endosteal and enchondral ossification.

Marble disease usually manifests itself in childhood. Family defeats are common. Symptoms that force the patient to see a doctor are pain in the limbs when walking. The development of deformities and the occurrence of pathological fractures of the bones of the extremities is possible. When examining the patient, no deviations in physical development are noted. An X-ray examination reveals that all the bones of the skeleton (tubular, ribs, pelvic bones, vertebral bodies) have a sharply compacted structure ( rice. ). The epiphyseal ends of the bones are somewhat thickened and rounded, the metaphyses are club-shaped, external shape and the size of the bones is not changed. All bones are dense and completely opaque to x-rays, there is no medullary canal, and the bone layer is not visible. The bones of the base of the skull, pelvis, and vertebral bodies are especially sclerotic. IN in some cases in the metaphyseal sections of the long tubular bones, transverse enlightenments are visible, which gives a marble tint.

Bones become less elastic and brittle. Pathological - not uncommon M.b. Fractures of the femur are most common. Thanks to normal state periosteum, their healing occurs in usual terms, but in some cases it slows down due to the exclusion of the endosteum from the process of osteogenesis, because the tissues of the medullary canal are sclerotic. The latter circumstance in childhood is the cause of the development of the secondary hypochromic type. Insufficiency of the hematopoietic function of the bone marrow leads to a compensatory increase in the size of the liver, spleen and lymph nodes. The number of leukocytes in the blood increases, immature forms appear - normoblasts. The content of phosphorus and calcium in the blood and urine does not change. Changes such as hypochromic anemia are possible.

A consequence of the change in structure bone skeleton are deformations of the facial and cerebral skull, spine, and chest. Proximal varus deformity may develop femur, breeches-like curvatures of the diaphyses of the femurs.

When skeletal hyperostosis appears in the first years of life, it develops as a consequence of osteosclerosis of the skull base; characterized by low, late onset of walking, weakening or loss of vision due to compression in the bone canals optic nerves, late appearance of islands of ossification of the epiphyses, delayed teething, which are often affected by caries.

It is not possible to restore normal bone formation processes in clinical conditions, because pathogenetic M.b. not yet developed. When anemia develops, a set of pathogenetic measures is carried out aimed at its elimination. To prevent and treat pathological fractures and bone deformities, dynamic observation by an orthopedist is necessary. In cases of significant dysfunction, corrective osteotomies are performed.

The prognosis for life is favorable, subject to timely prevention and treatment of complications (anemia, skeletal deformities).

Bibliography: Volkov M.V. Bone diseases in children, p. 250. M., 1985, Volkov M.V. etc. Hereditary systemic diseases skeleton, p. 181, M., 1982. Reinberg S.A. diseases of bones and joints, book. 1, p. 440, M., 1964.

X-ray of the hands and part of the forearms with congenital marble disease: excessive development of the compact substance, foci of sclerosis of bone tissue and compaction of its structure in various bones of the skeleton">

Rice. V). X-ray of the hands and part of the forearms with congenital marble disease: excessive development of the compact substance, foci of sclerosis of bone tissue and compaction of its structure in various bones of the skeleton.

Osteopetrosis is a complex disease of bone tissue in which its hardening occurs. The disease manifests itself from birth and is quite severe. The disease was first described by Dr. Schoenberg in 1904. In this case, the bone tissue develops abnormally and becomes very heavy. On the cut you can see a characteristic marble pattern, which is why the disease bears the same name.

The disease is quite rare. Despite the fact that marble disease is characterized by increased bone density, they are very fragile. This is due to destructive processes due to disruption of hematopoietic processes in the bone marrow.

What is a disease

If in a healthy body the cells responsible for the formation of bone structures are in balance with osteoclasts, which, on the contrary, have a destructive effect, then with osteopetrosis everything is completely different. Marble disease is caused by mutations in three genes.

In this case, there is a lack of the enzyme responsible for the production of osteoclast cells. Albers-Schönberg disease is dangerous because dense structures displace the bone marrow. This leads to a number of serious consequences. The main ones:

• thrombocytopenia;
• enlarged spleen and liver;
• anemia;
• damage to the lymphatic system.

Deadly marble has characteristic symptoms. The disease often manifests itself with fractures, which is why it has this name. When the visual apparatus is compressed by bone structures, blindness can occur.

The early form of the disease, unfortunately, is fatal. In this case, a malignant process develops that cannot be cured.

The late form appears already at an older age. The diagnosis is made based on x-rays. In the presence of an early form of the disease, pain syndrome appears. The discomfort is especially pronounced when walking. Bones may become deformed. The prognosis is extremely unfavorable. The person feels unsatisfactory and gets tired quickly.

A person with Albers-Schönberg disease can be identified by pale skin and short stature. Children often lag behind their peers in both mental and physical development. Diagnostics often reveals the presence of extensive dental caries. Juvenile osteopetrosis also manifests itself as deformation of the skull and other bones.

Diagnosis of pathology

The disease often causes bones to break even under their own weight. The diagnosis is made on the basis of a comprehensive study, which includes:

1. Blood analysis. It can detect a decrease in hemoglobin, which allows you to diagnose anemia. This disease is always accompanied by marble pathology.
2. Determination of phosphorus and calcium levels in the blood. If the number of such elements is reduced, this indicates the presence of destruction processes in bone tissue. In childhood, this process indicates marble disease.
3. X-ray examination. It is one of the most reliable methods in this case. At the same time, changes in the structure can be seen in the photographs. The canal containing the bone marrow is not visualized.
4. MRI and CT. Allows you to examine the condition of the bone in detail. Magnetic resonance imaging provides detailed information about each layer. In this case, the degree of damage is determined.

Recessive osteopetrosis and other forms of the disease are quite severe, and symptoms appear over time. The causes of the pathology are currently not fully understood. However, there is an opinion about the influence of a hereditary factor. The causes of illness in children are often associated with serious pathologies that the parents may have suffered. These also include congenital diseases. The connection between the etiology of the disease and these factors has not yet been proven.

Treatment and lifestyle

Complete relief from the disease is only possible through transplantation. There are no other effective treatment methods to date. However, auxiliary methods of therapy aimed at stopping the pathological process in bone structures can slow down the development of the disease and improve the quality of life.

It is important for patients with osteopetrosis to regularly perform a special set of exercises that will improve the general condition of the musculoskeletal system. Massage has an additional therapeutic effect. Swimming and proper nutrition will also help.

It is important that your child consumes as much protein as possible. To do this, you should include cottage cheese, cheese and other products in your diet. An adequate supply of fresh fruits and vegetables is necessary.

Visiting sanatoriums also gives good results. Unfortunately, it is impossible to prevent a child from developing such a dangerous pathology. If close relatives have such a pathology, then it is important for a pregnant woman to undergo a special diagnostic test already in the 8th week after conception.

Children with a malignant form of the disease can only be saved through surgical intervention. However, the risk of death is very high. The prognosis of bone marrow transplantation is controversial, since this method is still being studied and does not have a clear algorithm.

Children with such a complex disease should get more rest. Physical and mental stress should not be allowed. It is advisable to spend more time with your child in the fresh air. In adults, the pathology often has a benign course. Sometimes it does not manifest itself at all, so it is discovered by chance. There may be no pain at all.

If a child has an enlarged liver and spleen due to illness, it is recommended to follow an additional diet. The amount of fat needs to be reduced. Freshly squeezed juices should be included in the diet of a sick child. An adult also needs to adhere to a proper diet and monitor their weight so as not to provoke the appearance of symptoms. In severe cases, treatment of the disease is carried out in a hospital.

MARBLE DISEASE[syn.: Albers-Schönberg disease, congenital familial osteosclerosis, familial bone fossilization, generalized fragility osteosclerosis] is a rare congenital disease of a dysplastic nature, manifested by diffuse osteosclerosis of most skeletal bones.

M. b. first described on the basis of X-ray pictures by H. E. Albers-Schon-berg in 1904 and 1907. and bears his name. In the USSR, the first works devoted to microbiology were published in 1929-1930. M. B. Kopylov, M. F. Runova, N. M. Kudryavtseva. Publications, as a rule, are descriptive in nature and do not reveal the essence of the disease, which remains unclear. M. b. occurs in all age groups. It is distributed equally on all continents, in equally among men and women.

Etiology unknown. In the vast majority of cases, M. b. is family in nature and is passed on from generation to generation, although sporadically occurring M. b. has been repeatedly described in the literature. in people with uncomplicated heredity.

Pathogenesis little studied. M.V. Volkov classifies it as a disease of a dysplastic nature, i.e., congenital developmental anomalies, which are based on patol, bone growths that displace hematopoietic tissue. A.V. Rusakov puts M. b. on a par with oeteomyelodysplasia, although the relationship between them is not entirely clear. Gerstel considers M. b. as a result of disruption of the interaction of three different functions, parts of the skeleton: supporting, endosteal and hematopoietic apparatus. Violation of coordination between them leads, according to A.V. Rusakov, to the vicious formation of skeletogenic tissue and to the failure of myelogenous tissue.

Dysplasia of skeletogenic mesenchyme is expressed in the formation of functionally defective bone with accumulation in skeletal system an excessive amount of calcified, very fragile, easily broken bone substance. Myelogenous tissue develops in insufficient quantities.

Division of M. b. into benign and malignant forms is determined by the degree of involvement of one or another derivative of the primary mesenchyme. When damage to only skeletogenic mesenchyme predominates, they speak of a benign variant of M. b., which occurs only with osteosclerosis and often long time does not give any wedge, manifestations. If myelogenous mesenchyme is also involved in the process, then severe anemia develops - a malignant variant of the course of marble disease, in which a wedge and symptoms appear early.

Pathological anatomy

The main changes in M. b. are localized in bone tissue and are universal in nature. Bones with M. b. very heavy, difficult to saw, but easy to split. Very typical is the appearance of the femoral and humerus, having club-shaped thickenings in the lower and upper thirds, respectively, arising as a result of more rapid bone formation in these areas. When cut, long tubular bones do not have a medullary cavity; instead, a compact substance is visible, replacing the spongy substance and flat bones (spine, collarbones, skull bones). Sometimes in long tubular bones the compact substance can alternate with areas consisting of more porous bone substance, which looks like a grayish-reddish ring or belt running across the length of the bone (tsvetn. Fig. 1). The belt of rarefaction of the bone substance indicates the suspension of the processes of excessive bone formation at a certain stage of the disease. Macroscopically, it is possible to detect changes in the cortex of both long tubular and flat bones. In places, the continuity of the cortical substance is disrupted and instead of a compact structure, a spongy structure is found. As a result of this peculiar restructuring, the surface of the bone ceases to be smooth, acquiring a rough, spongy appearance (tsvetn. Fig. 2). The cortical substance of the bone has the character of dense (compact) bone or turns into spongy bone with medullary spaces containing predominantly immature hematopoietic tissue (so-called medullization of the cortical substance). Medullization is a compensatory phenomenon in response to the disappearance of medullary spaces. In the bones of the skull, medullization can serve as a source of epidural and sometimes subdural hemorrhages (color. Fig. 3). Vicarious hematopoiesis occurs in the spleen and lymph nodes, to a lesser extent in the liver, which is accompanied by splenomegaly and enlarged lymph nodes.

In some, especially severe cases, foci of hematopoiesis are observed in the kidneys (tsvetn. Fig. 4), perinephric tissue.

At microscopic examination It is found that patol, excessive bone formation occurs in all bones of the skeleton, both in the area of ​​the epiphyseal cartilage (growth zone) and along the diaphysis. Periosteal bone formation is very rarely observed. In the bone marrow spaces, in some cases, thick layered structures are found, located around the capillaries and representing patol, osteons. In other cases, the medullary spaces are filled with lamellar bone tissue with numerous arcuate lines of adhesion. There are beams made of immature coarse-fiber bone tissue. The number of osteoblasts in lamellar bone is reduced, and their distribution in bone tissue is uneven. Almost no bone resorption phenomena are observed. The bone marrow spaces are sharply narrowed and filled with fibroreticular tissue. Only in places can you find areas of bone marrow. In the zone of enchondral ossification, the main substance of cartilage does not undergo resorption, as is the case in physiol, conditions, but gives the formation of bone tissue, first in the form of rounded islands (Fig. 1), and then wide bone crossbars, at the edges of which remains are visible the main substance of cartilage. As it moves away from the epiphyseal cartilage, the bone substance acquires a lamellar structure (Fig. 2).

In some cases M. b. it is possible to detect diffuse parenchymal goiter with weight gain thyroid gland 3 times and hyperplasia parathyroid glands. Microscopic examination revealed hyperplasia of C-cells of the thyroid gland associated with the production of thyrocalcitonin. Thyroid calcitonin promotes the deposition of calcium and phosphorus in the bones and causes hypocalcemia, leading to secondary compensatory hyperplasia of the parathyroid glands. These changes indicate the importance of C-cell hyperplasia in the pathogenesis of marbled disease.

From the side of the c. n. With. Moderate microcephaly, hydrocephalus, and atrophy of nerve conductors (mainly the optic and vestibulocochlear nerves) are detected. In the kidneys, changes are noted in the glomerular basement membrane and degeneration of the epithelium of the renal collecting ducts. Septicemia or septicopyemia is often stated as a complication of osteomyelitis, which develops due to fragility of bones, patols, fractures and their infection.

Clinical picture

V. McKusik identified two forms of M. b. One of them is autosomal recessive, which is also called the malignant form. The other - autosomal dominant - is relatively benign. The malignant form is detected very early, sometimes even in utero or early childhood. When it affects the entire skeleton, hematopoiesis is sharply disrupted (see:.). The main wedge manifestations of the second form are fractures (see) and osteomyelitis (see). It is detected relatively late, sometimes even in mature or elderly people.

Clinical signs of the disease are very diverse and depend on the age of the patient, the severity of the disease; anemia is observed, a sharp decline visual acuity or blindness in newborns or infants, osteomyelitis, especially lower jaw, bone fractures.

Patients with M. b. in most cases short, somewhat childish, subcutaneous tissue poorly developed. Patients M. b. Children cannot walk for a long time, their teeth appear very late, fall out easily, and are affected by caries. The external outlines of the limbs do not change or change little due to the thickening of the epiphyseal and metaphyseal sections of the long tubular bones.

Bone deformations caused by disturbances in enchondral growth are quite common; these may include deformations of the facial and cerebral skull, ribs and chest, curvature of the spine, varus deformities of the limbs, etc.; The pelvic bones and even the shoulder blades may be affected.

The disease affects most bones of the skeleton, but the severity of the process in different bones is not the same. The process is most pronounced in the bones forming the base of the skull and in the long tubular bones: in the femur (usually in the distal sections), in the tibia, fibula and humerus (in the proximal). Patol is not uncommon. fractures of long tubular bones. Although the bones of patients M. b. sharply compacted, they are brittle, which is explained by the peculiarities of their architectonics, the edges lose function and character due to the disordered filling of bone structures. Sclerotic thickening of the bones of the base of the skull can lead to a narrowing of its openings and canals, most often the optic canal. In this regard, in children with M. b. Optic nerve atrophy may develop with progressive vision loss. Others are affected much less frequently cranial nerves.

In mild forms in adults M. b. may remain undetected or be discovered incidentally on bone x-rays.

Due to the “displacement” of the bone marrow by shapeless bone masses, patients develop anemia, usually hypochromic (see Iron deficiency anemia), less often normochromic and extremely rarely hyperchromic. Anisocytosis, poikilocytosis, Polychromatophilia and Erythroblastosis are often detected. In severe cases, ch. arr. in children, changes in the hematopoietic apparatus develop suddenly, rapidly progress and become direct cause of death; in other cases, more often in adults, anemia lasts for years. The blood calcium and phosphorus levels are close to normal. The lymph nodes, liver and spleen often enlarge, which is associated with the development of extramedullary foci of hematopoiesis in these organs. Extramedullary foci of hematopoiesis detected at autopsies are also described in the form of flat dark red protrusions under the periosteum of certain bones, under the hard meninges, which in these cases may resemble subdural hematomas.

Diagnosis established on the basis of clinical data and radiographs, examinations, which gives a very characteristic picture of changes in almost all bones, including vertebrae (see Marble vertebra). Marble disease received its name in connection with a special roentgenol, a picture of the epiphyseal ends of long tubular bones and small bones, which give on radiographs an intense homogeneous solid shadow, reminiscent of marble, without a boundary between the compact and spongy substances. Roentgenol, the study allows you to determine the prevalence of the process in the bones of the skeleton, clarify the nature of the patols, changes, monitor the course of the patols, the process and identify possible complications(pathological fractures, impaired enchondral growth of the skeleton, etc.). Along with this, rentgenol, the study makes it possible to recognize familial, asymptomatic cases of M. b.

X-ray changes are found in the bones of the skull, pelvis, vertebrae, proximal femur, ribs, and less commonly in the bones of the upper limbs, hands and feet. The shape and size of the bones usually remain normal. In some cases, frequent club-shaped thickening of the metaphyseal sections of long tubular bones is observed. The structure of the bones is dramatically changed. Instead of the usual trabecular, mesh pattern, the bones acquire a homogeneous density, with the greatest intensity of compact bone substance noted in the subcortical sections and at the border of the epiphysis and metaphysis, as well as along the growth zone of the apophysis (Fig. 3). As a result uneven growth of the skeleton, the affected sections acquire a peculiar pattern formed by parallel stripes and semirings. In the bones of the skull, bones of cartilaginous origin are primarily affected. Along with sclerosis of bone tissue, there is a narrowing of the canals through which the cranial nerves pass, paranasal sinuses the nose becomes obliterated. The vertebral bodies take on a peculiar appearance, the central part of which is lightened, and dense wide stripes are formed along the end plates (Fig. 4). The rate of enchondral ossification of the skeleton is often disrupted, which is manifested in the delayed appearance of ossification nuclei and synostosis of the epiphyses in the bones of the hands and feet.

Patol, bone fractures most often occur in the subtrochanteric region of the femur, less often in other tubular bones and ribs. The fracture plane is usually transverse or oblique-transverse (Fig. 5). Comminuted fractures are more rare. The displacement of fragments is usually insignificant.

), osteoplastic multiple metastases, especially cancer prostate gland. It should be taken into account that in childhood osteosclerosis can be caused by drug therapy congenital syphilis, as well as with hypervitaminosis A and D.

Treatment and Prognosis

Treatment is symptomatic. Blood transfusions give a temporary and unstable effect, and anemia in patients with actively ongoing M. b. progresses. Attempts to surgically expand the optic canals in patients with damage to the optic nerves were unsuccessful due to the irreversibility of developing changes in the optic nerves. Treatment of patol, fractures in patients with M. b., as a rule, is conservative.

The prognosis for the malignant form is unfavorable. The most severe M. b. occurs in early childhood.

Bibliography: Volkov M.V. Bone diseases in children, p. 397, M., 1974; Multi-volume guide to pathological anatomy, ed. A. I. Strukova, vol. 5, p. 500, vol. 6, p. 270, M., 1959; P e nberg S. A. X-ray diagnosis of diseases of bones and joints, vol. 1, p. 440, M., 1964; S e m e-II o v a E. I., F i n o g e n o v a N. A. and Gubare i k o L. P. Marble disease (Albers-Schönberg) in children, Pediatrics, Yes 11, p. 63, 1976; T a g e r I. L. and D b i h e and k about V. A. X-ray diagnosis of diseases of the spine, p. 321, M., 1971; A1b e r s - S with h o n b e r g H. Rontgenbilder einer seltenen Knochener-krankimg, Munch, med.Wschr., S. 365, 1904; he e, Eine bisher nicht besciireibene Allgcmeinerkrankimg des Skelettes im Ront-genbild, Fortschr. Rontgenstr., Bd 11, S. 261, 1907; Dux E. e. a. Ein Beitrag zum Veri au f und zur Entstehung der ma-lignen OsteoDetrose des Kmdesalters, Klin. p"adiat., Bd" 184, S. 282, 1972; Heritable disorders of connective tissue, ed. by V. A. McKusick, p. 809, St Louis, 1972; Herting W. u. Liebegoff G. t)ber die friihkindliche familiare Osteopetrosis, Beitr. Path., Bd 143, S. 183, 1971; Higinbotham N. L. a. Alexander S. F. Osteopetrosis, Amer. J. Surg., v. 53, p. 444, 1941, bibliogr.; Copy- 1 o w M. B. u. R u n o w a M. F. Ein Beitrag zur Kenntnis der Marmorknochen-krankheit, Fortschr. Rontgenstr., Bd 40, S. 1042, 1929; Stowens D. Pediatric pathology, p. 729, Baltimore, 1966.

H. E. Makhson; T. E. Ivanovskaya (pat. an.); M.K. Klimova (rent.).

Marble disease is rare congenital disease bones, which occurs in both boys and girls. For the first time, a German surgeon named Albers-Schoenberg told the world about this disease in 1904, and therefore in some sources the disease bears the name of this man. Compared to other similar diseases, this is described in great detail.

Causes

Today it is known that this disease is provoked by gene mutations. And they lead to the development of autosomal recessive osteopetrosis (this is the second name of the disease). All 3 genes in which the mutation was found are needed for normal functioning so-called osteoclasts. Osteoclasts are huge cells in the body that destroy bone tissue, dissolving its mineral base and destroying collagen. Moreover, these cells work on a par with osteoblasts. The process looks like this: osteoclasts destroy old bone tissue, and osteoblasts create it. When this balance is disturbed, marble disease develops.

Most cases of osteopetresis are based on a mutation in a gene called TCIRG1. In this case, the number of osteoclasts can be normal, moderate or increased. It all depends on how the function of these giant cells is disrupted due to the development of a gene mutation. However, the exact mechanism of development of this disease remains unknown.

It is believed that an enzyme called carbonic anhydrase is to blame. In this disease, it is practically absent from osteoclasts. And this leads to the fact that the bone tissue simply stops deteriorating, but continues to form according to the correct type, there are no violations here - it becomes denser, there is too much of it.

Symptoms

Despite the fact that there is too much bone tissue, this does not make the bones strong. On the contrary, they are incredibly fragile and can break under their own weight. But most often the periosteum itself is pathological process is not involved, so bone fusion occurs without any problems.

There are two forms of marble disease. The first occurs in children with severe symptoms. The second occurs completely without symptoms and is detected by chance. On early stage disease, bone sclerosis, that is, the replacement of bone tissue with another, occurs in the area of ​​​​the metaphyses of tubular bones. Throughout the rest of the length, the bone remains without any visible changes.

In addition to the bones themselves, the teeth also suffer. They appear very late, and their structure is also damaged. Most often, a child’s teeth have underdeveloped roots, and the teeth themselves are quickly subject to destruction due to the development of carious cavities. There are many other symptoms, for example - pain in the legs or arms, fatigue when walking or other physical activity. Bone deformation and pathological fractures may develop.

Diagnosis and complications

The basis for diagnosing marble disease in children is X-ray examination. The picture shows that the bones have a very dense structure - they are completely opaque to x-rays, which is typical only for this disease. The bones in the picture look like black spots, although normal bones should be transparent.

However, the external shape of the bones and their size are not changed. Another diagnostic criterion is the absence of a bone marrow canal. In addition, in some cases, but not always, radiolucencies are visible in long bones on an x-ray. This gives the bones a marbled tint, which is why the disease is called marbled.

The most frequent complications for marble disease are:

1. Hypochromic anemia.
2. Enlarged liver.
3. Enlarged spleen.
4. Enlarged lymph nodes.
5. Deformation of the facial part of the skeleton.
6. Hydrocephalus.
7. Weakening or total loss vision.
8. Delayed teething.

Treatment

cure it genetic disease impossible. The best treatment is a bone marrow transplant, but no effective treatment has yet been found. The only thing specialists can do is carry out therapeutic exercises, which are aimed at strengthening the neuromuscular system.

Except therapeutic exercises A massage and swimming in the pool are mandatory. The child must receive rich in vitamins and minerals nutrition, with high content squirrel. Required periodic treatment in sanatorium-resort conditions.