Gaucher disease is the most common of ozlizosomnyh storage diseases, developing as a result of deficiency of the enzyme glucocerebrosidase, resulting in many tissues, including the liver, spleen, lungs, kidneys, brain and bone marrow, accumulated glucocerebroside.By itself, the disease is a rare disease.Its development is due to the presence of the gene defect that is responsible for the synthesis of the lysosomal enzyme beta hydrolytic - glucocerebrosidase.The article presents a photo of Gaucher disease, symptoms of the disease and its treatment.
symptoms of Gaucher disease
The symptoms of Gaucher disease is a significant enlargement of the spleen and liver enlargement, resulting in abdominal pain may occur, a false sense of early satiety and a feeling of general discomfort.Sometimes the liver may be slightly increased compared with the spleen, except in cases where the spleen is removed.Often, due to the presence of the disease may impair liver function.Changes that occur in the spleen can cause an
Often the symptoms of Gaucher disease is the appearance of weakness of bones, marked bone diseases, including pathological fractures, arthrodesis of the ankle joint.
have sick children can be marked dysplasia.It is important to know that Gaucher disease has ambiguous external manifestations and more specific symptoms that may vary in different patients than the difficult process of diagnosis.
Gaucher disease can be of 3 types:
- type 1 (benign) for which there is a lack of neurological disorders, the link between visceral changes mainly with blood-forming organs, the phenomena of hypersplenism, enlarged spleen, bone destruction;
- type 2 (cancerous), in which there are grave neurological damage, is already apparent in the newborn.In this type of the disease a child dies in the first 2 years of life;
- type 3, which is characterized by variability in visceral and neurological disorders.It is less than a malignant type 2.
Diagnosis of the disease for the diagnosis of Gaucher disease known method 3, the finest of which is to perform a blood test based on the fact to identify the enzyme.If the white blood cells or skin fibroblasts in culture is determined by the level of glucocerebrosidase, the diagnosis can be established unambiguously.
With the help of DNA analysis provides the ability to detect genetic mutations and lack of the enzyme glucocerebrosidase.The basis of this method of diagnosis of the disease is the latest technology of molecular biology.An advantage of the method is that it is possible by the implementation of an early diagnosis, for example, during pregnancy.With this method a carrier of the disease is detected with a probability of more than 90%, it is possible to predict the severity of the disease in the future, which is not provided by any other diagnostic method.
The third method of diagnosis of the disease is the analysis of the implementation of the bone marrow, so the opportunity to identify the characteristic of Gaucher disease changes in bone marrow cells.To date, this method is not practically used because it is possible using only the diagnosis of patients, and non-carriers of the disease.
Treatment of Gaucher disease
More recently, the treatment of Gaucher disease was reduced to to cure the symptoms, ie,the spleen is removed, due to pathological fractures were performed orthopedic surgery, etc.To date, use the method of substitution fermentoterapii.Treatment of the disease in this way is injection conducted one every 2 weeks, and can be prescribed only to patients who have severe symptoms present."Easy" patients may be advised to observe professional.