Osteopetrosis (Deadly marble, marble disease). Causes of marble disease

Marble disease is rare congenital pathology. To date, just over 300 cases of its manifestation have been described in detail. The disease is predominantly inherited. However, a sick child can also be born to healthy parents.

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Description of the disease

The disease was first described in 1904 by the German surgeon H.E. Albers-Schönbers. That's why it is called Albers-Schönberg syndrome. The literature also contains the names death marble and osteopetrosis, which translated means petrification of bones.

Marble disease is a consequence of mutation of three genes. The birth defect causes a malfunction in the genetic program for the formation and maintenance of bone cells called osteoclasts. normal functioning.

Osteoclasts are cells that break down bone tissue. They dissolve the mineral content of bones and remove collagen, releasing specific enzymes and hydrochloric acid. Together with other bone cells - osteoblasts - osteoclasts control the number bone tissue. Osteoblasts form new tissue, and osteoclasts destroy old tissue.

The altered genes block proteins that support the normal functioning of osteoclasts. This condition leads to a stop in the production of enzymes by osteoclasts or of hydrochloric acid. In some cases, there may be a cessation of production of both components at the same time. However, a lack of hydrochloric acid is more often detected.

If the normal functioning of osteoclasts is disrupted, skeletal ossification during growth does not occur correctly. Too many salts are retained in the bone tissue and an excessive amount of compact substance is formed.

It is a layer of bone elements located close to each other. Thanks to its high density the substance gives strength to the skeleton, but has a high weight. 80% of the mass of the human skeleton is the weight of the compact substance of its bones. Therefore from of this element Only the outer cortex is formed. Interior bone consists of a less durable but lighter spongy substance.

The number of osteoclasts in patients with marble disease may be normal, insufficient or excessive. However, no matter how many there are, they do not function correctly.

Inherited changes in the disease play a role in the development of the disease. metabolic processes calcium and phosphorus. Imbalance various types calcium leads to disorders mineral composition bone substance.

Patients with osteopetrosis have a 50% chance of having sick children.

What do the bones of a patient with osteopetrosis look like?

The excess of compact substance in those suffering from marble disease makes their bones very dense. They sometimes completely lack bone marrow cavities.

A section of pathologically formed bone has a uniform white-gray structure. It lacks the normal distinctions between layers. The spongy layers also consist of a dense, compact bone cortex. The cut surface resembles the color of marble. Bones are similar to rock not only in appearance, but also in hardness. It is very difficult to saw through pathologically altered tissue. Due to its resemblance to marble, the disease began to be called marble disease.

Despite increased density improperly formed bones, they are very fragile. The structure of such tissue may contain inclusions of undissolved calcified cartilage.

There are autosomal recessive and autosomal dominant types of the disease.

Autosomal recessive type

The autosomal recessive type of the disease is very rare (1 case per 250 thousand people). This is a malignant childhood form of osteopetrosis. It may appear already during intrauterine development baby in the form of progressive anemia.

A newborn baby may have an enlarged liver and spleen (hepatosplenomegaly) already at birth. And in the ventricular system of his brain there may be accumulated cerebrospinal fluid(hydrocephalus). In other cases, hepatosplenomegaly and hydrocephalus develop later.

In a child with osteopetrosis, the accessory cavities of the skull (most often the main and frontal cavities) are compacted. This condition of the bones in the facial and brain parts heads are visible to the naked eye. The face has a characteristic appearance: the eyes are set far apart, the cheekbones are wide, the mouth is large, the lips are large, the root of the nose is recessed, and the nostrils are wide and turned outward.

Patients are pale skin. Their lymph nodes are often enlarged. The teeth of children with osteopetrosis are often affected by caries. They erupt late, slowly and with great difficulty. The roots of the teeth are underdeveloped.

In osteopetrosis, the function of not only osteoclasts, but also blood cells - monocytes - is impaired. Over time, a significant decrease in the amount of all blood components that form its composition may occur.

Often sick children develop hemorrhagic diathesis. The disease is characterized by multiple hemorrhages and bleeding.

Squeezing cranial nerves causes blindness and hearing loss in infants. Compression by excess bone tissue nerve endings can lead to peripheral paresis and paralysis.

Sick children begin to walk late, are stunted, and gain weight poorly. They have a curvature of the legs of the varus (O-shaped deformity) or valgus (X-shaped deformity) type. The chest and spine may be curved.

Children with marble disease often develop purulent process in bone tissue or bone marrow (osteomyelitis), leading to disability.

Autosomal recessive marbled disease is fatal disease. Children rarely live past 10 years. The most common cause of death is anemia or sepsis.

Autosomal dominant species

The autosomal dominant type of osteopetrosis occurs much more often than the autosomal recessive type: 1 time per 20 thousand people. It develops gradually as the patient grows older. Anemia in such children is not too pronounced, but neurological disorders are diagnosed less frequently.

Almost half of the patients develop the disease asymptomatically. Bone fragility is the main manifestation of the autosomal dominant form marble disease in another part of the patients. Pathological disorders occur even after the most minor injuries. The most common diagnosis is femoral fractures. In the normal state of the periosteum, the process of fusion occurs in normal times. But in some cases, there is very slow healing of damaged bones.

The reasons for visiting a doctor are pain in the limbs when walking and high fatigue. During X-ray examination it is found pathological condition bone tissue.

Separation of subspecies

The autosomal dominant type of osteopetrosis has 2 forms of manifestation. They can be determined during an x-ray examination:

1. The first one is more common in young adults. Characterized by thickening of the cranial vault. Fractures of the limbs occur quite rarely with this form.
2. The second - occurs in late childhood or in adolescence. In such children, fractures occur very often. Their teeth are affected by caries. The development of osteoarthritis (degenerative-dystrophic joint disease), osteomyelitis (especially in lower jaw), in addition, scoliosis (curvature of the spine).

Autosomal dominant osteopetrosis type 2 is characterized by a “striated” spine, arched areas of pathological thickening in the wings of the iliac bones and compaction of the cancellous bone.

In both forms of the autosomal dominant type, a decrease in bone marrow cavities is observed. In most patients, long tubular bones are affected.

Their body is compacted uniformly along the entire length, and focal compactions are found at the ends. Similar bone tissue defects arise in the place of undissolved calcified cartilage. There is no clear distinction between compact and spongy substances.

The progression of the disease occurs in waves during skeletal growth. This is due to the transverse striations of the long tubular bones and vertebral bodies. In addition to them, the pelvic bones, skull, ribs and other bones may be affected.

Diagnostic measures

Diagnosis of marble disease is carried out on the basis of analysis clinical manifestations and the presence of specific abnormalities during X-ray examinations.

If marble disease is suspected, the patient is prescribed general tests blood and urine, troponin test, as well as a study to determine the concentration of enzymes in the blood: aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase and creatine phosphokinase. Biochemical analysis will determine the level of calcium and phosphorus ions in the blood. If the concentration of these substances is reduced, the activity of osteoclasts is insufficient. Indicates a dysfunction of cells negative result troponin test.

To make a diagnosis, the patient is ultrasound examinations internal organs. If enlargement of the spleen and liver is detected, areas are examined abdominal cavity And chest.

X-rays can detect a systemic increase in bone density and pathology in bone structure.

Computed tomography and magnetic resonance imaging methods make it possible to study the structure of bone tissue very carefully. The research is carried out layer by layer.

To confirm the diagnosis, the patient may undergo genetic and histological studies bone tissue. The patient is referred for consultation to a traumatologist, orthopedist and pediatrician.

Bone marrow transplantation

The best results in the treatment of autosomal recessive type of marbled disease were achieved with transplantation bone marrow from identical donors.

After the substance is transplanted, the affected tissues of the patient with marbled disease are populated with donor osteoclasts. Properly functioning transplanted cells restore the process of tissue destruction, as a result of which the patient’s bones gradually reduce the concentration of the compact substance.

After successful transplant bone marrow increases hemoglobin in the blood. Expanding the lumen of the cranial canals releases compressed nerves. The patient can regain full vision and hearing. Restore motor function limbs affected by paralysis.

A timely bone marrow transplant procedure allows a sick child to catch up with his peers in height and weight in a short time.

Most big problem during transplantation is the selection of material. The condition for a successful bone marrow transplant is the tissue compatibility of the donor and recipient. In this case, matching blood groups is not considered a prerequisite.

Candidates for the role of donor are selected primarily among close relatives. The probability of finding a tissue-matched donor among siblings is 25%. If a suitable candidate could not be found among relatives, he is looked for among strangers.

Other treatments

If a suitable donor cannot be found, autosomal recessive osteopetrosis is treated with Calcitriol or Interferon. This therapy allows the body to form osteoclasts that produce normal amount enzymes and hydrochloric acid. After using the drugs, the patient's condition improves. His vision and hearing may return.

Drugs are used to treat marble disease steroid hormones, macrophage (colony-stimulating factor), Erythropoietin.

To stop pathological process a hypocalcium diet is used. A chronic lack of calcium in the body does not allow bone tissue to form new compactions.

The patient must carefully monitor hygiene oral cavity and prevent the disease of ostemyelitis of the lower jaw. To do this, you should visit your dentist regularly and follow all his recommendations.

When diagnosing an autosomal dominant type of osteopetrosis, symptomatic treatment non-steroidal anti-inflammatory drugs.

The patient is recommended swimming, massage and physiotherapy. It is important to adhere healthy image life and proper nutrition. Significant improvement The patient’s condition is observed after sanatorium treatment. The prognosis for the autosomal dominant type of marbled disease is favorable.

Osteopetrosis is complex disease bone tissue, in 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 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 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 series severe consequences. The main ones:

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

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

Early form 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. 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 both mentally and physical development. Diagnosis often reveals the presence of extensive carious lesion teeth. 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:

Blood analysis. It can detect a decrease in hemoglobin, which allows you to diagnose anemia. This disease always accompanied by marble pathology.
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.
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.
MRI and CT. Allows you to examine the condition of the bone in detail. Magnetic resonance imaging gives 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 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 in auxiliary ways therapy aimed at stopping the pathological process in bone structures, you can slow down the progression of the disease and improve the quality of life.

For patients with osteopetrosis, it is important to regularly perform special complex exercises that will improve general state musculoskeletal system. Additional healing effect provides massage. Swimming and proper nutrition will also help.

It is important that the child consumes as much as possible more protein. 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 result. Unfortunately, to warn a child against developing such dangerous pathology impossible. If close relatives have such a pathology, then it is important for the pregnant woman to undergo a special diagnostic test already in the 8th week after conception.

Save the children from malignant form diseases are possible only with surgical intervention. However, the risk fatal outcome very high. The prognosis of bone marrow transplantation is controversial because this method It 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. 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 extra 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 is a rare congenital pathology. To date, just over 300 cases of its manifestation have been described in detail. The disease is predominantly inherited. However, a sick child can also be born to healthy parents.

Show all

Description of the disease

Marble disease is a consequence of mutation of three genes. The birth defect causes a malfunction in the genetic program to form bone cells called osteoclasts and maintain their normal functioning.

Osteoclasts are cells that break down bone tissue. They dissolve the mineral content of bones and remove collagen, releasing specific enzymes and hydrochloric acid. Together with other bone cells - osteoblasts - osteoclasts control the amount of bone tissue. Osteoblasts form new tissue, and osteoclasts destroy old tissue.

The altered genes block proteins that support the normal functioning of osteoclasts. This condition causes osteoclasts to stop producing enzymes or hydrochloric acid. In some cases, there may be a cessation of production of both components at the same time. However, a lack of hydrochloric acid is more often detected.

It is a layer of bone elements located close to each other. Due to its high density, the substance gives strength to the skeleton, but has a high weight. 80% of the mass of the human skeleton is the weight of the compact substance of its bones. Therefore, only the outer cortical layer is formed from this element. The inner part of the bone consists of a less durable, but lighter, spongy substance.

The number of osteoclasts in patients with marble disease may be normal, insufficient or excessive. However, no matter how many there are, they do not function correctly.

Inherited changes in the metabolic processes of calcium and phosphorus play a role in the development of the disease. An imbalance of various types of calcium leads to disruption of the mineral composition of bone matter.

Patients with osteopetrosis have a 50% chance of having sick children.

What do the bones of a patient with osteopetrosis look like?

The excess of compact substance in those suffering from marble disease makes their bones very dense. They sometimes completely lack bone marrow cavities.

Despite the increased density of malformed bones, they are very fragile. The structure of such tissue may contain inclusions of undissolved calcified cartilage.

There are autosomal recessive and autosomal dominant types of the disease.

Autosomal recessive type

The autosomal recessive type of the disease is very rare (1 case per 250 thousand people). This is a malignant childhood form of osteopetrosis. It can manifest itself already during the baby’s intrauterine development in the form of progressive anemia.

A newborn baby may have an enlarged liver and spleen (hepatosplenomegaly) already at birth. And in the ventricular system of his brain there may be accumulated cerebrospinal fluid (hydrocephalus). In other cases, hepatosplenomegaly and hydrocephalus develop later.

In a child with osteopetrosis, the accessory cavities of the skull (most often the main and frontal cavities) are compacted. This condition of the bones in the facial and brain parts of the head is visible to the naked eye. The face has a characteristic appearance: the eyes are set far apart, the cheekbones are wide, the mouth is large, the lips are large, the root of the nose is recessed, and the nostrils are wide and turned outward.

Patients have pale skin. Their lymph nodes are often enlarged. The teeth of children with osteopetrosis are often affected by caries. They erupt late, slowly and with great difficulty. The roots of the teeth are underdeveloped.

Often sick children develop hemorrhagic diathesis. The disease is characterized by multiple hemorrhages and bleeding.

Compression of the cranial nerves causes blindness and hearing loss in the infant. Compression of nerve endings by excess bone tissue can lead to peripheral paresis and paralysis.

Children with marble disease often develop a purulent process in the bone tissue or bone marrow (osteomyelitis), leading to disability.

Autosomal recessive marbled disease is a fatal disease. Children rarely live past 10 years. The most common cause of death is anemia or sepsis.

Autosomal dominant species

The autosomal dominant type of osteopetrosis occurs much more often than the autosomal recessive type: 1 time per 20 thousand people. It develops gradually as the patient grows older. Anemia in such children is not too severe, and neurological disorders are diagnosed less frequently.

Almost half of the patients develop the disease asymptomatically. Bone fragility is the main manifestation of the autosomal dominant type of marble disease in another part of patients. Pathological disorders occur even after the most minor injuries. The most common diagnosis is femoral fractures. In the normal state of the periosteum, the process of fusion occurs in normal times. But in some cases, there is very slow healing of damaged bones.

The reasons for visiting a doctor are pain in the limbs when walking and high fatigue. During an X-ray examination, a pathological condition of the bone tissue is detected.

Separation of subspecies

The autosomal dominant type of osteopetrosis has 2 forms of manifestation. They can be determined during an x-ray examination:

1. The first one is more common in young adults. Characterized by thickening of the cranial vault. Fractures of the limbs occur quite rarely with this form.
2. The second - occurs in late childhood or adolescence. In such children, fractures occur very often. Their teeth are affected by caries. The development of osteoarthritis (degenerative-dystrophic disease of the joints), osteomyelitis (especially in the lower jaw), and scoliosis (curvature of the spine) is likely.

Autosomal dominant osteopetrosis type 2 is characterized by a “striated” spine, arched areas of pathological thickening in the wings of the iliac bones and compaction of the cancellous bone.

In both forms of the autosomal dominant type, a decrease in bone marrow cavities is observed. In most patients, long tubular bones are affected.

The progression of the disease occurs in waves during skeletal growth. This causes the transverse striations of long tubular bones and vertebral bodies. In addition to them, the pelvic bones, skull, ribs and other bones may be affected.

Diagnostic measures

Diagnosis of marble disease is carried out on the basis of an analysis of clinical manifestations and the presence of specific abnormalities during X-ray examinations.

If marble disease is suspected, the patient is prescribed general blood and urine tests, a troponin test, as well as a test to determine the concentration of enzymes in the blood: aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase and creatine phosphokinase. Biochemical analysis will determine the level of calcium and phosphorus ions in the blood. If the concentration of these substances is reduced, the activity of osteoclasts is insufficient. A negative troponin test result indicates a dysfunction of cells.

To make a diagnosis, the patient undergoes ultrasound examination of internal organs. If an enlargement of the spleen and liver is detected, areas of the abdominal cavity and chest are examined.

X-rays can detect a systemic increase in bone density and pathology in bone structure.

Computed tomography and magnetic resonance imaging methods make it possible to study the structure of bone tissue very carefully. The research is carried out layer by layer.

To confirm the diagnosis, the patient may undergo genetic and histological studies of bone tissue. The patient is referred for consultation to a traumatologist, orthopedist and pediatrician.

Bone marrow transplantation

The best results in the treatment of autosomal recessive marbled disease have been achieved with bone marrow transplantation from identical donors.

After a successful bone marrow transplant, hemoglobin in the blood rises. Expanding the lumen of the cranial canals releases compressed nerves. The patient can regain full vision and hearing. Restore motor function of limbs affected by paralysis.

A timely bone marrow transplant procedure allows a sick child to catch up with his peers in height and weight in a short time.

The biggest problem during transplantation is the selection of material. The condition for a successful bone marrow transplant is the tissue compatibility of the donor and recipient. In this case, matching blood groups is not considered a prerequisite.

Candidates for the role of donor are selected primarily among close relatives. The probability of finding a tissue-matched donor among siblings is 25%. If a suitable candidate cannot be found among relatives, they look for him among strangers.

Other treatments

If a suitable donor cannot be found, autosomal recessive osteopetrosis is treated with Calcitriol or Interferon. This therapy allows the body to form osteoclasts that produce normal amounts of enzymes and hydrochloric acid. After using the drugs, the patient's condition improves. His vision and hearing may return.

To treat marble disease, steroid hormones, macrophage (colony-stimulating factor), and erythropoietin are used.

To stop the pathological process, a hypocalcium diet is used. A chronic lack of calcium in the body does not allow bone tissue to form new compactions.

The patient must carefully monitor oral hygiene and prevent the disease of mandibular osteomyelitis. To do this, you should visit your dentist regularly and follow all his recommendations.

When diagnosing an autosomal dominant type of osteopetrosis, symptomatic treatment with non-steroidal anti-inflammatory drugs is carried out.

The patient is recommended swimming, massage and therapeutic exercises. It is important to adhere to a healthy lifestyle and eat well. A significant improvement in the patient's condition is observed after sanatorium treatment. The prognosis for the autosomal dominant type of marbled disease is favorable.

Marble disease(congenital osteosclerosis, osteopetrosis) – this is very rare hereditary disease, which affects the skeleton and bone marrow of a child or adolescent. In patients, bones become brittle and the hematopoietic system ceases to function fully.

Depending on the timing of the onset of the first symptoms of the disease and the nature of these symptoms, congenital osteosclerosis is divided into early and late. Early form of marble disease It develops in children of the first year of life and is very difficult, which is why it is also called malignant. In its turn late form, which occurs more often in adolescence, is accompanied by less pronounced pathological changes in both the skeleton and the hematopoietic system. Such patients have various problems with health, but in general the prognosis for their life is favorable.

Causes of marble disease

Marble disease is a hereditary pathology. Scientists were able to discover three genes responsible for the development of congenital osteosclerosis. It is these genes that encode proteins that are necessary for the proper functioning of osteoclasts and osteoblasts - the cells on which the condition of bone tissue depends. If a mutation occurs in one of these genes, the offspring may develop marbled disease.

Malignant form of the disease in question transmitted in an autosomal recessive manner. That is, for a child to get sick, both parents must have mutated genes. This feature of inheritance of marbled disease explains the fact that in some isolated ethnic groups where there are many consanguineous marriages, the number of cases of this disease significantly higher than in the population.

The late form of marble disease, on the contrary, has autosomal dominant type of transmission, therefore it occurs more often (only one of the parents can have the mutated gene).

People with a family history of marble disease may undergo special diagnostics, identifying altered genes. This will allow us to predict whether future children will have health problems.

Mechanisms of development of marble disease

The basis of this pathology is an imbalance between the formation and resorption (resorption) of bone tissue. This disorder occurs due to a decrease in the number of osteoclasts (cells responsible for bone resorption) or their improper functioning.

Due to imbalance, bone tissue becomes denser and becomes redundant, but this does not mean that its strength also increases. Vice versa, With marble disease, bones lose elasticity and become brittle. In addition, with osteosclerosis, replacement of the intraosseous cavity of tubular bones and spongy substance of flat bones is noted connective tissue. That is, where bone marrow should normally be, sclerotic cells appear. This leads to disruption of the functioning of the hematopoietic system.

In general, all of the above pathological changes cause the appearance of skeletal deformities in patients, various neurological disorders.

Symptoms of marble disease

The clinical picture of marble disease is polymorphic. Patients usually have symptoms of damage to the musculoskeletal system, hematopoietic and nervous systems.

The main symptom of marble disease is pathological fractures. They are called pathological because they occur with minimal trauma and on large, powerful bones (most often the femur). After a fracture it can develop (this is one of the most dangerous complications marble disease).

In addition to fractures, when examining patients, the doctor may detect various skeletal deformations (O-shaped legs, disproportionate skull, pathological changes in the spine). Due to deformation and changes in bone structure, patients experience pain in the legs and back when walking.

Damage to the hematopoietic system in marbled disease is manifested by symptoms of anemia: pallor, weakness. In response to insufficient hematopoietic function of the bone marrow, the liver and spleen enlarge and weaken immune defense organism, hemorrhagic diathesis develops.

The appearance of neurological disorders in congenital osteosclerosis is associated with compaction of the skull bones and a decrease in the size of the anatomical openings through which the nerves pass (due to such changes, compression of the nerves occurs). Therefore, patients may experience peripheral paresis and paralysis, vision problems. When filling the bone labyrinth with bone tissue inner ear development of deafness is possible. In addition, due to skull deformation, patients may suffer from hydrocephalus.

In general, children with marble disease are characterized by a lag in physical development, various problems with teeth, and massive lesions of the dentition.

In late forms of marble disease clinical picture, as a rule, smoothed, no pronounced neurological manifestations, skeletal deformities. Only repeated pathological fractures can lead doctors to think about osteosclerosis.

Diagnostics

Research helps doctors confirm the diagnosis.. On x-rays In patients, all the bones of the skeleton are compacted (not transparent to x-rays), there is no medullary canal in the tubular bones, and there is a club-shaped thickening of the humerus and femurs.

When examining the blood of patients, signs of anemia and an increase in some biochemical parameters(activity of acid phosphatase, etc.). As a rule, there are no changes in urine analysis (this distinguishes osteosclerosis from destructive diseases bones, in which bone tissue resorption predominates over its formation).

For a more detailed study of their health status, patients need to consult a neurologist, hematologist, ophthalmologist, otolaryngologist, or dentist. Various genetic tests may also be required.

Principles of treatment

To date, there are no methods to completely cure marble disease. This is primarily due to the fact that this pathology is very rare and doctors simply do not have enough clinical experience fight her. Therefore, so far it is considered the most effective for marble disease. bone marrow transplantation. With the help of transplantation, you can try to restore the process of bone tissue resorption and hematopoiesis in the patient’s body. This technique is used for malignant recessive forms of the disease. In addition, various treatment regimens for congenital osteosclerosis are being developed and tested.

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. Possible development of deformations and occurrence pathological fractures limb bones. When examining the patient, no deviations in physical development are noted. At x-ray examination it is discovered 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, the external shape and size of the bones are 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 some cases, transverse enlightenments are visible in the metaphyseal sections of long tubular bones, which gives a marbled tint.

Bones become less elastic and brittle. Pathological - not uncommon M.b. Fractures of the femur are most common. Thanks to normal state of the periosteum, their healing occurs in the usual time frame, 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.

The consequence of changes in the structure of the bone skeleton is deformation of the facial and brain skull, spine, 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 start walking, weakening or loss of vision due to compression in the bone canals optic nerves, late appearance islands of ossification of the epiphyses, delayed teething, which are often affected by caries.

Restore to clinical settings normal processes bone formation fails, 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, it is necessary dynamic observation at the orthopedist. In cases of significant dysfunction, corrective osteotomies are performed.

The prognosis for life is favorable, provided 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 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.