osteopetrosis (marble or disease) - a serious congenital disease of the skeleton, which is characterized by excessive ossification (generalized or localized).In most reported cases of hereditary pathology.Very rarely, the disease occurs in a healthy family.
pathology was first studied and described by the German doctor Albers-Schoenberg in 1904.The literature marble osteopetrosis also known as congenital systemic osteosclerosis.In children, the diagnosis is exposed almost immediately after birth.The disease occurs in severe form, there are cases of deaths.At a less severe osteopetrosis is determined only in adulthood and is usually a random finding on X-rays due to a broken bone.
Causes
many years, scientists can not reach a consensus on the etiology of the disease Albers-Schonberg.It is believed that the body started the pathological processes that prevent the normal absorption of calcium and phosphorus.Severe metabolic minerals give rise to disease called osteopetrosis.What is it and why is activated the mechanism of destruction of bone tissue, it is not possible to find out.
In most cases it is possible to trace a definite hereditary disease.Osteopetrosis ("deadly marble") can be transmitted as an autosomal dominant and autosomal recessive.In the first case pathology already detected in adulthood and is relatively easy.When transmitting a recessive trait Albers-Schonberg disease is diagnosed shortly after birth, and proceeds with a lot of complications.
How is pathology?
pathogenesis of osteopetrosis is insufficiently studied.It is assumed that even in utero disrupted normal interaction of bone and hematopoietic tissue.Osteoclasts - cells responsible for the destruction of the skeleton - not fulfill its function.As a result, changes the structure of bones, they are deformed and no longer cope with its task.In addition, significantly disrupted blood supply and innervation of the skeleton.Most often affects the long bones, the bones of the skull, pelvis and spine.
Classification osteopetrosis
- autosomal recessive form (developed at birth, occurs with severe complications and frequent fatal).
- autosomal dominant form (detected in adulthood, is benign).
osteopetrosis - what is it?Symptoms
recessive modes of transmission When the first signs of disease appear immediately after birth.Boys and girls suffer equally often.The baby's face has a distinctive look: wide cheekbones, planted far apart eyes.The root of the nose is always pressed, nostrils turned outwards, thick lips.Soon developed progressive anemia, and hydrocephalus, there is a marked increase in the liver and spleen.Very common hemorrhagic diathesis.The inevitable finale becomes multiple bone lesions.With the spread of the skull occurs compression of visual and auditory nerves develop blindness and deafness.
osteopetrosis - a deadly process involving almost all the long bones.Most children do not even live up to 10 years.Develops suppurative osteomyelitis of the bone, leading to disability.The cause of death, tend to become severe anemia and sepsis.
When dominant variants of pathology is diagnosed in school-aged children as well as adults.Usually, the patient is not even aware that his body has lodged such an insidious disease.Osteopetrosis is usually accidental discovery of X-rays at about the fracture.In many cases, the pathology occurs completely asymptomatic.Some patients complain of recurrent pain in the bones, while others are frequent customers of trauma, and then getting on the operating table with pathological fractures.Anemia usually expressed negligible, neurological disorders resulting from compression of nerve fibers is rare.
In milder forms of the disease Albers-Schonberg mental disorders in the development of not noticed.It is very characteristic of this disease is a late teething, their abnormal development, susceptibility to caries.Low growth is not peculiar birth, retarded physical development revealed closer to the year.
osteopetrosis (a fatal marble).Diagnosis
In case of an early pathology of a little patient falls into the hands of doctors in the first months of life.In this case, the diagnosis is usually not much difficulty.The characteristic appearance of the patient makes it possible to suspect osteopetrosis.At older ages, patients usually are already registered at the orthopedist due to frequent fractures.In adults, the clinical picture is blurred, many signs do not show that the more difficult the diagnosis.
In all cases, regardless of age X-ray is able to confirm or deny osteopetrosis.What is it and what is the point of the method?In a specially equipped office is a picture of the affected area in two projections.The X-ray clearly visible seal bones, while the boundary between the tube and the spongy substance is absent.The bones are deformed, metaphyses (the area near the joints) are considerably expanded.Typically, the process involves the spine, skull and pelvis.Fluctuating course of illness provides vertebrae and transverse striation of long bones, which is clearly visible on x-ray.
Treatment osteopetrosis
Radical cure of this disease has not been developed.Mostly symptomatic treatment aimed at improving the general condition and quality of life.If the disease Albers-Schonberg detected early, the patient can perform bone marrow transplantation.This is a relatively new procedure that allows you to save the life of a child, even in case of severe lesions of the skeleton.The earlier performed a bone marrow transplant, the better the chances of a successful outcome of the disease.
For the operation required to obtain material from a close relative with whom the patient will emerge maximum compatibility HLA-genes.Otherwise, the bone marrow does not take hold, there will be serious complications that threaten the life of the patient.The compatibility are special blood tests to help you determine the similarity of the genome of the donor and recipient.
If successful outcome of the operation structure of the bone is gradually recovering.There is improvement in general condition, normal vision and hearing.Transplantation - this is the only chance for those patients in whom other treatments have not yielded any tangible results.
transplant bone marrow stem cells is also a very promising avenue for the treatment of diseases such as osteopetrosis.What it is?In this case, not only is transplant organ, but only single cells.They take root in the bone marrow of the patient and restore normal hematopoiesis.This procedure is much easier to tolerate little patients, as does not require intravenous anesthesia.
used to treat adults calcitriol or γ-interferon, which normalize the activity of osteoclasts, thereby hindering the process of destruction and compaction of bone tissue.Such therapy can significantly reduce the risk of new fractures, which favorably affects the quality of life of the patient.
Complications osteopetrosis
frequent fractures of long bones - a problem that sooner or later faces every patient.Most suffer from hip, there may be damage to the lower jaw, spine, chest.Against the backdrop of the process of hematopoiesis develops purulent osteomyelitis, difficult to treat.Pronounced deformation of limbs - the inevitable result of severe disease called osteopetrosis.Photo consequences of this pathology dostotatochno look scary.
forecast
course of the disease depends on the age of the patient.In some cases the development of pathology may suddenly stop and nothing to remind myself many years.In other embodiments, the progression of the disease occurs with severe anemia and frequent purulent infections.The younger the child, the greater the likelihood of severe complications and death.In contrast, an adult disease manifests itself as a much less active, annoying only increased fragility of bones.
Regardless of the severity of the disease, all patients with a confirmed diagnosis of life must be observed at the orthopedist.An experienced doctor will be able to timely detect any resulting complications and, if necessary, appoint additional methods of examination and treatment.
