Marble disease, treatment

Marble disease and the history of its occurrence.

A German doctor, a surgeon by profession, Albers-Schönberg first described the marble disease in 1904.Thanks to his works, sometimes you can find another name - Albers-Schoenberg's disease. Some doctors refer to it as congenital osteosclerosis or osteopetrosis, sometimes adding to these names the adjective "family", which clearly reflects the hereditary predisposition to the disease.

In marble disease, the substance is intensified, from which the bones are composed, as a result, the consolidation of all the bones of the skeleton begins and the reduction of hemopoiesis in the bone marrow. At the same time, the calcium - phosphorus metabolism in the body is severely impaired, the bones become brittle.

Stages of the disease.

Physicians define two somewhat different forms of development of marble disease - congenital( or early) and late. It should be said that at the time of birth, marble disease in the progressing stage is rare, usually this process is aggravated with age. In connection with the hereditary predisposition to the disease, whole families are often ill. The late marble disease passes almost without symptoms and is diagnosed completely by accident. Often patients do not even suspect about their disease, and all symptoms are written off for other possible reasons.

Diagnostics.

Exact diagnosis of marble disease is possible only with the use of X-ray equipment. With visual examination of patients, there can be no deviations in physical development. Only occasionally an abnormal growth of the teeth is observed, in which the patient is unable to close his mouth. X-ray images immediately become noticeable strongly condensed structure of all bones, although their external dimensions and shape remain unchanged. All the skeletal bones are absolutely opaque, the bone marrow canals are poorly observed. This phenomenon is especially pronounced in the bones of the pelvis, the base of the skull, the spine. The general view of bones on the X-ray image resembles marble with inclusions, hence the name of the disease - marble. You should know that some compaction of bones can be seen in the presence of other diseases - rickets, lymphogranulomatosis and osteomyelitis. Therefore, an accurate diagnosis can only be made by a doctor, analyzing other indicators of the patient's condition.

Symptoms.

As a result of densification of bones with marble disease, their strength and elasticity are significantly reduced. Patients suffer from pathological fractures, especially the hip bones, although the fractures are fused in due time. The most dangerous course of the disease in childhood, as fractures can lead to the development of anemia. In marble disease, due to a significant decrease in the volume of the bone marrow, its functions are limited. To replace the necessary elements, the spleen, liver, and lymph nodes begin to perform the replacement function, and as a result they increase significantly in volume.

Over time, patients may experience a significant change in the chest, spine, skull, curvature of the hip bones. Sick children are small in size. Because of the strong squeezing of the nerve endings at the base of the skull, it is possible to change the visual acuity, up to its loss, and the disruption of the facial muscles.

Disease and treatment.

In fact, effective treatment of marble disease has not yet been found. The main thing for this disease is timely diagnosis and constant observation by the orthopedist in order to identify possible complications. There have been attempts to treat the disease in children by bone marrow transplantation, but there are no stable positive results. Recently, all the therapy is reduced to strengthening the nervous and muscular systems, as well as to regulate blood formation in case of anemia.

To strengthen the neuromuscular system, massage, physiotherapy, swimming is recommended. These sparing gymnastic measures can improve the condition of the muscles, reduce the likelihood of fractures. Any exercise should be done slowly and with the utmost care. Ideally, if the classes will be held in small groups in the presence of a physiotherapist or medical professional. Patients often recommend treatment in sanatoriums or resorts, which are engaged in specific treatment of diseases of the bone system.

To improve the general condition of the body with marbled disease, advise proper nutrition, rich in natural products and vitamins. In the diet must be the maximum amount of fresh fruits and vegetables.

With the aim of inhibiting the development of marble disease, the administration of corticosteroids is prescribed. These drugs have a strong influence on the normalization of water-salt metabolism and increased biological activity.

In cases of hemopoietic disorders, some doctors recommend taking antihomotoxic drugs, prescribing Galium-Heel or a homeopathic drug Osteochel. Possible treatment with medulla ossis suis-Injeel and Osteomyelosklerose-Nosode-Injeel.

With a strong change in the jawbone, the enamel of the teeth is thinned and quickly destroyed in patients. In this case, only one way of eliminating the defect is possible - modern prosthetics. Due to the latest achievements in dentistry, the most suitable implants or prostheses can be chosen for each patient. In young children susceptible to marbling, the development and eruption of teeth slows down. Often the teeth are underdeveloped, the roots are poorly formed, such teeth can be highly prone to tooth decay. These problems are also solved together with the dentist.

This is what marble disease looks like, the treatment, recent research in the field of gene medicine inspire hope in patients with marble disease. Scientists have found three genes, the change of which leads to such an unpleasant pathology. The mutation of these genes disrupts the normal functioning of bone cells. Probably, in due course the way of influence on the mutated genes will be found, and someday the person will win this disease.