Gaucher disease

DEFINITIONS

Gaucher disease is an inherited condition that causes accumulation glukoserebrosid, which is the result of fat metabolism.

CAUSE

Genetic disorder that causes Gaucher disease is recessive; 2 patients had to have an abnormal gene for the occurrence of symptoms.

SYMPTOMS

This disease causes enlargement of the liver and spleen, and brown pigmentation of the skin.

Glikosesrebrosid accumulation in the eyes of yellow spots menyababkan called pinguekula.
Glukoserebrosid accumulation in the bone marrow can cause pain.

This disease has 3 forms:

1. Type 1: chronic adult form.
Most of these patients showed chronic adult form.
Occur liver and spleen enlargement with bone disorders.

2. Type 2: Forms of Infantile.
Occurs in infancy.
Babies with this disease have an enlarged spleen and nervous system disorders are severe.
Necks and their backs become stiff due to muscle spasms.
These babies will die within 1 year.

3. Type 3: Forms of juvenile.
Can begin at any time in childhood.
The children with this disease have an enlarged liver and spleen, bone disorders and nervous system disorders that develop slowly.
Children who survive to adolescence may live for several years.

Bone disorders can cause pain and swelling in the joints.

In severe cases of anemia may occur and the inability to produce blood cells and platelets and white.
The patient was pale, weak, prone to infection and excessive bleeding.

Diagnosis

If found enlargement of the liver or anemia and Gaucher disease is suspected, then performed a liver biopsy or bone marrow to confirm the diagnosis.

The diagnosis of the fetus before birth can be done by examining cells derived from chorion villi sample or amniocentesis (amniotic fluid examination).

Gaucher Tues

TREATMENT

This disease can be treated with enzyme replacement therapy.
The cost is very high, where the enzyme is given intravenously, usually 2 times / week.
This therapy is very effective in patients who do not have nervous system complications.

To cope with possible anemia blood transfusions.

Appointment spleen surgically done to:
- To treat anemia
- Treat white blood cell count low
- Treat the low platelet
- Reduce the discomfort from an enlarged spleen.