Gaucher disease is a rare genetic disorder, the success of which depends largely on early diagnosis and adequate therapies.
Gaucher disease is a genetic hereditary disease and belongs to a category of accumulation diseases. The basis of the disease is the lack of activity of the enzyme glucocerebrozydy.
In a healthy body, this enzyme promotes the processing of cellular metabolism waste, but with its lack in the cells of the internal organs accumulate an organic fatty substance - glucocerebrozydy. For the first time this process was described in 1882 by the French physician Philip Gaucher, whose name gave the name of this disease.
It is believed that in the first place, Gaucher's disease affects the spleen and the liver, but cells of accumulation may appear in other organs - in the bone and brain, lungs and kidneys.
Causes of Gaucher disease
There are different data on the frequency of the disease, usually researchers say that the disease is found in one of tens of thousands of cases. In Ukraine it is included in the list of rare (Orf) diseases.
It is also noted that Gaucher's disease of the first type is most common in the ethnic group of Jews, ashkenazi, but may also occur in people of another ethnicity.
The cause of the disease is a mutation of the glucocerebrase gene: in the body of each person, there are two such genes. If one of the genes is healthy and the other is affected, then the person is the carrier of the disease Gaucher.
The risk of the birth of a child with Gaucher's disease in a healthy, in the clinical sense of the parent, is possible when both the father and mother are carriers of the affected gene. The difficulty lies in the fact that the person who is the carrier of the gene, does not feel the symptoms of the disease, and therefore does not think about the need for gene expertise.
Symptoms and course of Gaucher disease
The symptoms and course of the disease differ in types, which at the moment there are three.
- The most common is the disease of the first type: the disease can occur at any age, does not affect the nervous system, and sometimes even asymptomatic.
- More rare are the second and third type of disease: the first symptoms are manifested in childhood, the disease affects the nervous system and has a progressive course.
The onset of the disease is characterized by abdominal pain and general discomfort and weakness. Since Gosha's cells are the first to accumulate liver and spleen, these bodies increase in size, which, in the absence of adequate treatment, can lead to liver dysfunction or spleen rupture.
Bone pathology is also common, especially in childhood: skeletal bones are weak and poorly developed, resulting in a possible delay in growth.
Diagnosis and treatment
Genetic mutation can be determined by DNA testing even in the early stages of pregnancy. If it is a suspicion of an adult or a child, an analysis of the blood for the enzyme or an analysis of the bone marrow is required.
Treatment of Gosha disease is based on substitution fermentotherapy: regular intravenous administration helps to cope with the symptoms of Gaucher's disease of the first type. Treatment of diseases of the second and third type is much more complicated and requires a complex approach.
The prognosis of the condition and life expectancy of the patient can only be given by a doctor on the basis of a comprehensive study.