Gaucher 's Disease - Causes, Symptoms , Treatments


1. types of Gaucher disease

2. Diagnostics

3. Treatment of Gaucher disease

4. Prevention

Gaucher disease or glyukoziltseramidny lipidosis- is a congenital hereditary disease, which leads to the accumulation in certain organs and bones of specific fat deposits.Development of disease is due to the deficiency of the enzyme glucocerebrosidase, which facilitates splitting of the molecules certain fats, resulting in the deposition of glucocerebroside in the cells of many tissues, including the spleen, liver, kidney, lung, brain and bone marrow.Infected cells are called Gaucher cells.

The disease is named for the French physician Philippe Gaucher, who first described it in 1882.As a result of Gaucher cells grow to the size of hypertrophic, which leads to deformation and disruption of organ functioning.

Inheritance disease occurs in an autosomal recessive manner.That is, it manifests itself fully only if both mother and father are carriers of the mutated gene.In carriers of t

he mutant gene also disrupted enzyme glucocerebroside, but not so much that it turned into a disease.

According to the research, a group of 400 people there are 1 carrier of the gene.Therefore, in some cultures where marriages are accepted in the circle of closely related gene carriers of this disease 10 times higher, and therefore more likely to having a child with Gaucher disease.

types of Gaucher disease

Doctors divide the disease into three types:

- 1 type (without neyronopatii).This is the most common form of the disease occurs in one case, by 40-60 thousand. People.Some people may be asymptomatic, in other cases, a serious, sometimes life-threatening symptoms, but the brain and nervous system are not affected.Most often, this type of disease occurs among a group of Ashkenazi Jews.

characterized by the following symptoms of Gaucher disease type 1: an enlarged spleen during childhood, anemia and excessive bleeding, pain in the bones, frequent fractures, deformity of the femur, short stature.Patients with this type of disease can live long enough.

- 2 type (acute neyronopatiey).This form is less common, less than one person out of 100 thousand people.Manifestations of the disease with more than the first type of Gaucher disease.In the first year of life, there are pronounced neurological disorders, such as seizures, hypertonicity, mental retardation.Symptoms of Gaucher disease at the same time include hepatosplenomegaly, progressive brain damage, dysmotility eyes, stiff limbs, spastic paralysis.Usually sick children die before the age of two years.

- 3 type (with chronic neyronopatiey).The incidence of the disease is also less than 1 case per 100 thousand people.In most cases, it manifested by slow progression and moderate neurological symptoms.At the age of two years of a child increases the spleen.As the disease progresses, the following symptoms occur Gaucher disease: strabismus, spasticity, seizures, incoordination, dementia.The process involves other organs and systems.Patients with this form of the disease may survive into adulthood.

Diagnosis Diagnosis requires examination of a pediatrician, neurologist, ophthalmologist and geneticist consultation.In today's medical practice, there are 3 method of diagnosis of the disease.

most accurate method of diagnosis - by results of a blood test on the content of the enzyme glucocerebrosidase in white blood cells or cultured skin fibroblasts.

relatively recently developed a method for the diagnosis of Gaucher disease by DNA analysis, which allows to identify genetic mutations and lack the content of glucocerebrosidase enzyme.This method allows you to make a diagnosis during pregnancy with an accuracy of more than 90%, as well as to predict the severity of the disease in the child after birth.

third diagnostic method involves the bone marrow analysis to identify the characteristic of the disease changes in bone marrow cells.Previously, this was the only method that allows to put the diagnosis, but it does not allow to identify carriers of the mutant gene, but only indicates the presence of disease.To date, this method is hardly used.

Treatment of Gaucher disease

Until recently, the treatment of Gaucher disease was directed only to reduce her symptoms.In 1991 a method was developed fermentoterapii substitution using a modified form of the glucocerebrosidase enzyme.Thus in patients with severe symptoms biweekly injections administered drug that helps reduce the appearance of disease or in some cases, completely stop disease progression.

artificial enzyme for the treatment of Gaucher disease is obtained using innovative technologies in the field of medicine and genetic engineering.It copies the operations and functions of the natural enzyme, successfully making up for its deficiency in the body.This method has been successfully used for the treatment of Gaucher disease type 1, at the same time, the sooner therapy is started, the better results can be achieved.

Such symptoms of Gaucher disease, a pain in the bones removed analgesics.If necessary, the spleen is removed patients or part of it.In some cases, bone marrow transplantation.


only method of prevention of Gaucher disease is a genetic screening.If a child is born in the family suffering from the disease in subsequent pregnancies determine the presence of glucocerebrosidase in the cells of the amniotic fluid.At deficiency of this enzyme in the fetus, doctors recommend abortion.


This article is available exclusively in the educational purposes and is not research material or professional medical advice.

make an appointment to see a doctor

Latest Blog Post

Mental development - symptoms, treatment
August 12, 2017

Contents: 1. Causes of mental development 2. Classification 3. Common symptoms of disorders in children's mental development 4...

Violations of cerebral circulation - symptoms, treatment
August 12, 2017

Contents: 1. Causes of cerebral circulation 2. Types of violations 3. Symptoms of cerebral circulation 4. Diagnostics 5. ...

Treatment of circulatory disorders of the lower extremities
August 12, 2017

Contents: 1. Causes of circulatory disorders feet 2. Symptoms 3. treatment of circulatory disorders of the lower extremities ...