Osteopetrosis deadly marble what is this photo. Marble disease

Among hereditary pathologies, a congenital disease stands out, affecting the formation bone tissue- marble disease. Pathology due to changes in bone structure negatively affects the activity of all organs and systems. Synonyms for the disease described by the German doctor Albers-Schönberg in 1904 are lethal marble, osteopetrosis, congenital osteosclerosis and Albers-Schönberg's disease.

Marble disease V medical practice It is rare; 1 in 300 thousand babies suffers from this pathology. But in some regions (Chuvashia, Mari-El) osteopetrosis is more common. The peculiarity of the development of pathology in children of these regions is due to the ethnogenesis of the indigenous population.

Marble disease is classified as a rare hereditary pathology. The disease is accompanied by compaction of the bone structure of the skeleton, as well as a decrease in the size of the bone marrow space. On x-rays the compacted bone structure resembles marble in appearance, which is why the disease has a corresponding name.

Interesting! X-rays are not able to “illuminate” the bone affected by the disease

Increased compaction of bone structures does not give the skeleton additional strength; on the contrary, the bones become weak and brittle. The femoral part of the body suffers more than others. The disease is dangerous not only because of the weakness of the bones, but also because the constant proliferation of tissue in the bone apparatus provokes the closure of the canals where the bone marrow is located. All this negatively affects hematopoiesis, which slows down and is disrupted.

The patient’s body “turns on” a protective reaction and tries to compensate for the loss of hematopoietic sites in the bone marrow. After this it begins additional education foci of hematopoiesis, but in other internal systems - the spleen, then in the liver, and then in the lymph nodes, provoking their enlargement.

Development factors

Doctors have not identified the exact reason for the development of deadly marble. It is believed that the pathology is formed due to a violation of phosphorus-calcium metabolism. The provoking factor also includes an imbalance between the old, deteriorating bone tissue and the new one being formed.

Deadly Marble is hereditary disease. Genes whose mutations affect the development of congenital pathology have been identified. This process blocks proteins that are responsible for the development of osteoclasts, cells that promote the destruction of excess bone tissue). Mutation of proteins causes a violation of osteosynthesis, after which osteopetrosis occurs.

Clinical picture

There are 2 types of osteopetrosis:

• Pathology manifests itself in early childhood. The symptoms of osteopetrosis are vivid.
• Pathology is detected in old age. It proceeds calmly, without symptoms and is determined during an x-ray examination.

Symptoms of death marble can manifest in different ways. Adult patients turn to the doctor with complaints of severe fatigue and constant pain in the lower limbs. Frequent injuries, as well as bone deformation, may indicate the manifestation of pathology.

In children, symptoms of osteopetrosis are detected when visual inspection specialist The baby has:

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To diagnose pathology the following is prescribed:

• blood and urine tests;
• radiography.

On early stage development of pathology appearance bones in the patient is similar to the structure of the bone structure healthy person. But as osteopetrosis progresses, the bone structure becomes fragile, which threatens the patient with frequent fractures or bone deformation.

Who treats osteopetrosis?

When manifested clinical signs marble disease, it is important to consult the following specialists:

1. Since osteopetrosis is hereditary pathology, then you need to make an appointment with a geneticist, who will identify the exact causes of the development of the pathology.
2. After performing radiological diagnostics, the radiologist will determine the degree and nature of the pathology.
3. A trauma surgeon is a doctor who specializes in pathologies bone apparatus, it is he who prescribes adequate treatment and gives the patient all the necessary consultations.

Treatment

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At the present time, the most effective treatment osteopetrosis is a transplant bone marrow. Unfortunately, this method therapy is at the development stage, so it is not used as an official method of treating osteopetrosis. Complex surgery is performed in foreign clinics at appropriate prices.

Treatment in Russia is aimed at strengthening bone, muscle and nervous tissue. For this, exercise therapy, physiotherapeutic measures, and manual therapy are used. The patient’s diet must be adjusted and measures taken to prevent the progression of concomitant diseases.

Treatment of osteopetrosis in childhood

In children, therapy for marble disease should adhere to the following tactics:

• Prescription of hormonal drugs.
• Strengthening the body's defenses with vitamin therapy.
• Prescription of interferons.
• Therapeutic methods aimed at preventing the development of anemia.
• For fractures - surgical intervention.

The listed methods are aimed at stopping the progress of pathology and reducing complications. In most cases, timely therapy helps the patient live a normal life. In case of inadequate or Not timely treatment the pathology progresses, spreading to internal systems. In the absence of proper therapy, the prognosis is unfavorable and often leads to the death of the patient, especially if a child suffers from osteopetrosis.

Prevention

If you have relatives suffering from marble disease, the likelihood of having a baby with signs of pathology is high. In this option, a pregnant woman up to 8 weeks of pregnancy is asked to undergo prenatal diagnosis, which allows you to accurately determine whether the fetus has a predisposition to the development of lethal marble. The listed actions do not apply to preventive methods, they only help to the expectant mother do conscious choice- give birth to a baby with a hereditary disease (if it is diagnosed) or terminate the pregnancy.

Prevention of osteopetrosis is a regular visit to an orthopedist, who will recommend the patient physical therapy aimed at strengthening bone tissue and muscles. As a preventive measure, it is useful to engage in swimming, special therapeutic exercises, and undergo a massage course.

How to forget about back and joint pain?

We all know what pain and discomfort are. Arthrosis, arthritis, osteochondrosis and back pain seriously spoil life, limiting normal activities - it is impossible to raise an arm, step on a leg, or get out of bed.

Osteopetrosis (Marble disease or Albers-Schönberg disease)- it's rare hereditary disease, which is characterized by impaired bone resorption ( natural process destruction of bone tissue), resulting in increased bone density and, as a result, an increased tendency to fractures and the development of skeletal deformities. The prevalence of the disease in the world is 1: 100,000, 1: 200,000, however, due to the ethnogenesis of the population, these indicators in the Mari El Republic are 1: 14,000, and in Chuvashia - 1: 3,500, 4,000 newborns.

Symptoms of osteopetrosis with early onset (up to a year)

In addition to increased bone density, symptoms of osteopetrosis can be expressed in impaired bone marrow function (due to displacement of bone marrow by growing bone tissue), paralysis various groups muscles, including facial and eye (due to compression of nerves by growing bone tissue), developmental delays and other signs, such as:

• pathological fractures;
• hydrocephalus and deformation of the skull bones;
• tendency to bruises and bleeding;
• anemia;
• late teething;
• deafness and/or blindness;
• sleep apnea (temporary cessation of pulmonary ventilation);
• enlarged liver and spleen;
• frequent infectious diseases.

Osteopetrosis is fatal dangerous disease with early (up to a year) development of the disease. The main causes of death are severe infections, anemia and bleeding. In the absence of timely treatment (tcm), most children do not survive beyond 3 years of age.

Causes of osteopetrosis

Osteopetrosis is genetic disease, which can be inherited according to an autosomal recessive or autosomal dominant (with a late onset of the first symptoms) type of inheritance. In autosomal recessive inheritance, both parents must be carriers recessive genes, and the disease usually does not manifest itself in any way. This type of inheritance is characterized by the early development of the disease. In the case of autosomal dominant inheritance, one of the parents has signs and symptoms of osteopetrosis. With this type of inheritance, the disease manifests itself at a late age.

Disturbances in osteoporosis are observed mainly in the following genes: CLCN7, IKBKG, TNFSF11, TCIRG1.

Types of osteopetrosis

Osteopetrosis with early development:

• diagnosed before one year;
• the prognosis of the disease is poor;
• serious disturbances in bone marrow activity;

Osteopetrosis in older children:

• diagnosed in children older than one year;
• the prognosis of the disease is unfavorable;
• autosomal recessive type of inheritance.

Osteopetrosis in adults:

• diagnosed in adolescence or in youth;
• the prognosis is good;
• there are no disturbances in bone marrow activity;
• autosomal dominant type of inheritance.

Diagnosis of osteopetrosis in Israel

To diagnose osteopetrosis in Israel, a complex of the most modern methods studies that allow, in each specific case, to accurately determine the type of disease, the degree of its development and predict the success of treatment.

• thorough examination and description of the clinical picture;
• X-ray;
• blood and urine tests;
• biopsy of bone tissue and skin tumors;
• genetic tests(help predict the body's response to treatment).

Treatment of osteopetrosis in Israel

In most cases, the only method that guarantees high
effectiveness in the treatment of severe forms of osteopetrosis early development, is . Other methods make sense either to prevent the progression of the disease or to eliminate complications that have already arisen. In the treatment of osteopetrosis in Israel it is also used drug therapy the most modern drugs.

Unfortunately, bone marrow transplantation in Russia is carried out on a first-come, first-served basis, so timely treatment is not always possible. Ukrainian medicine does not have the necessary medical base to carry out this procedure. Therefore, for many patients from these countries, treatment of osteopetrosis in Israel becomes the only chance for salvation.

Treatment of osteopetrosis at the Hadassah Clinic

The medical center "" has the greatest experience in the treatment of osteopetrosis in Israel. At the clinic's Center for Pediatric Oncohematology, bone marrow transplants have been successfully completed and many patients from the CIS countries have been cured.

The bone marrow transplant department at the Hadassah Medical Center is equipped with the most modern technology. Operations are carried out in isolated rooms with special systems air purification. During the entire period of treatment, each patient is provided with the most comfortable conditions and round-the-clock medical support.

The doctor, head of the bone marrow transplantation department, treats patients with osteopetrosis. medical center" ". Dr. Stefanski is a world-renowned pediatric bone marrow transplant specialist; author of unique methods and research; member of European and American oncohematological associations.

Prognosis for the treatment of osteopetrosis in Israel

The latest protocol used in bone marrow transplantation in medical
center "", allows achieving success in treatment in approximately 95% of patients. The best results are achieved when bone marrow transplantation is performed before the age of three months.

Osteopetrosis (or marble disease) is a severe congenital skeletal disease characterized by excessive ossification (generalized or local). In the majority known cases pathology is inherited. Very common in healthy families.

The pathology was first studied and described by the German doctor Albers-Schoenberg in 1904. In literature marble osteopetrosis also known as congenital systemic osteosclerosis. In children, the diagnosis is made almost immediately after birth. The disease is severe, and cases of deaths. With more mild flow Osteopetrosis is only detected in adulthood and is usually an incidental finding on radiography due to a bone fracture.

Causes

For many years, scientists have not been able to come to a consensus about the etiology of Albers-Schönberg disease. It is believed that pathological processes are launched in the body that interfere with the normal absorption of calcium and phosphorus. Serious violations mineral metabolism leads to the appearance of a disease called osteopetrosis. It is not possible to find out what it is and why the destruction mechanism is activated.

In most cases, it is possible to trace the unambiguous hereditary nature of the disease. Osteopetrosis (“death marble”) can be transmitted in either an autosomal dominant or autosomal recessive manner. In the first case, the pathology is detected already in adulthood and goes away relatively easily. With recessive transmission of the trait, Albers-Schoenberg disease is diagnosed immediately after birth and occurs with a large number of complications.

How does pathology develop?

The pathogenesis of osteopetrosis is not well understood. It is assumed that even in utero the normal interaction between bone and hematopoietic tissue. Osteoclasts - the cells responsible for the destruction of the skeleton - do not perform their function. As a result, the structure of the bones changes, they become deformed and cease to cope with their task. In addition, the blood supply and innervation of the skeleton are significantly impaired. The long tubular pelvis and spine are most often affected.

Classification of osteopetrosis

• Autosomal recessive form (develops from birth, occurs with severe complications and frequent death).
• Autosomal dominant form (detected in adulthood, has a benign course).

Osteopetrosis - what is it? Symptoms of the disease

With a recessive transmission route, the first signs of pathology appear immediately after birth. Boys and girls get sick equally often. The child's face has characteristic appearance: wide cheekbones, eyes set far apart. The root of the nose is always depressed, the nostrils are turned outward, and the lips are thick. Soon, progressive anemia and hydrocephalus develop, and a pronounced enlargement of the liver and spleen occurs. Hemorrhagic diathesis is very common. The inevitable outcome is multiple bone lesions. When the process spreads to the cranium, compression of the visual and auditory nerves, blindness and deafness develop.

Osteopetrosis is a fatal process affecting almost all long bones. Most children do not even live to see 10 years of age. Purulent osteomyelitis of bone tissue develops, leading to disability. The cause of death is usually severe anemia and sepsis.

With the dominant variant, pathology is detected in children school age, 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 incidental finding on x-ray of a bone fracture. In many cases, the pathology is completely asymptomatic. Some patients complain of periodic bone pain, others become frequent clients of traumatologists, continually ending up on the operating table with pathological fractures. Anemia, as a rule, is mild, neurological impairment as a result of compression nerve fibers are rare.

For mild forms of Albers-Schönberg disease mental disorders not noticeable in development. Very characteristic of this pathology is late teething, their improper development, and a tendency to caries. Low growth at birth is not typical, delay in physical development appears closer to a year.

Osteopetrosis (deadly marble). Diagnostics

In case of early development of pathology little 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 older ages, patients are usually already registered with an orthopedist due to frequent fractures. In adults clinical picture blurred, many signs do not appear, which somewhat complicates the diagnosis.

In all cases, regardless of age, X-ray examination can confirm or refute osteopetrosis. What is it and what is the meaning of the method? In a specially equipped room, a photograph of the affected area is taken in two projections. X-rays clearly show compaction of the bones, with no boundary between the tubular and spongy substances. The bones are deformed, the metaphyses (areas near the joints) are significantly expanded. The process usually involves the spine, skull and pelvis. The undulating course of the disease ensures transverse striations of the vertebrae and long tubular bones, which is clearly visible on the x-ray.

Treatment of osteopetrosis

No radical cure has been developed for this serious disease. Treatment is mainly symptomatic, aimed at improving general condition and improving quality of life. If Albers-Schönberg disease is detected in early age, the patient can undergo a bone marrow transplant. It's relative new procedure, allowing you to save the life of a child even in the event of severe lesions skeleton. The sooner a bone marrow transplant is performed, the greater the chance of a successful outcome of the disease.

To perform the operation, it is necessary to obtain material from which the patient will have maximum HLA gene compatibility. Otherwise, it will not take root and problems will arise. serious complications threatening 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 the bone tissue is gradually restored. The general condition improves, vision and hearing are normalized. Transplantation is the only chance for those patients for whom other treatment methods have not brought any visible results.

Bone marrow is also very promising direction for healing from a disease such as osteopetrosis. What it is? IN in this case It is not the entire organ that is being transplanted, but only individual cells. They take root in the patient’s bone marrow and restore normal hematopoiesis. This procedure is much easier to tolerate for young patients, since it does not require intravenous anesthesia.

For the treatment of adults, calcitriol or γ-interferon is used, which normalize 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 has a beneficial effect on the patient’s quality of life.

Complications of osteopetrosis

Frequent fractures of long tubular bones are a problem that every patient faces sooner or later. The hip suffers the most, damage is possible lower jaw, spine, chest. Against the background of a disrupted hematopoietic process, purulent osteomyelitis develops, which is difficult to treat. Severe deformities of the limbs are the inevitable result of a serious disease called osteopetrosis. Photos of the consequences of this pathology look quite scary.

Forecast

The course of the disease largely depends on the age of the patient. In some cases, the development of pathology may suddenly stop and not remind anyone of itself. long years. In other cases, the disease progresses with severe anemia and frequent purulent infections. How younger child, those more likely severe complications and fatal outcome. And, on the contrary, in adulthood the disease manifests itself much less actively, annoying only the increased fragility of the skeletal bones.

Regardless of the severity of the disease, all patients with a confirmed diagnosis should be monitored for life by an orthopedist. An experienced doctor will be able to timely identify any complications that arise and, if necessary, prescribe additional methods examinations and treatment.

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 others 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 necessary for the normal functioning of the 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 bone tissue simply stops being destroyed, but continues to form according to the right 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 more often than not, the periosteum itself is not involved in the pathological process, 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. At an early stage of the disease, bone sclerosis, that is, the replacement of bone tissue with another, occurs in the area of ​​​​the metaphyses of the 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 external shape bones and their size are not changed. Another diagnostic criterion- This 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

There is no cure for this genetic disease. Bone marrow transplantation works best, but in reality effective treatment so far it has not been found. The only thing specialists can do is carry out therapeutic exercises, which are aimed at strengthening the neuromuscular system.

In addition to therapeutic exercises, 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.

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 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 others 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 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. 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. 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 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.

A child with osteopetrosis has thickened accessory cavities skull (most often the main and frontal). 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 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 of excess bone tissue on 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. May be curved rib cage and spine.

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 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 commonly diagnosed fractures are femur. At in good condition periosteum, the process of fusion occurs in usual terms. 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 is discovered 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. 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. 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.

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 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 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. A negative troponin test result indicates a dysfunction of cells.

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 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 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 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 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 amount 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 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. 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.