Gaucher disease is an genetic abnormality that causes the accumulation glukoserebrosid, and that is a result of fat metabolism.
gaucher disease CAUSE
Genetic disorder that causes Gaucher disease is recessive; patients have to have 2 abnormal genes to the occurrence of symptoms.
gaucher disease symptoms
This ailment causes enlargement from the liver and spleen and also brownish pigmentation of the epidermis.
Accumulation within the eye menyababkan glikosesrebrosid yellow spots called pinguekula.
Glukoserebrosid accumulation within the marrow can cause pain.
This disease has three forms:
1. Type 1: chronic adult form.
Most of the people with this disease show chronic adult form.
Liver and spleen enlargement occurs with bone disorders.
2. Type 2: Infantile form.
Is situated infancy.
Babies using this disease offer an enlarged spleen plus a serious neurological system disorder.
Spinal they become stiff caused by muscle spasms.
These babies will die within 1 year.
3. Type 3: Form juvenile.
Could can start any time in childhood.
Children with this disease have an enlarged liver and spleen, bone abnormalities and nerves abnormalities that develop slowly.
Children who survive to adolescence, can live for a very extensive period.
Bone disorders may cause pain and swelling inside joints.
In severe cases, anemia can take place and also the inability to produce white blood cells and platelets.
The individual was pale, weak, subject to infection and excessive bleeding.
gaucher disease Diagnosis
When you found an enlarged liver or anemia and Gaucher disease is suspected, then your liver or bone marrow biopsy to make sure that the identification.
Decides the fetus before birth is possible by examining cellular structure purchased from chorion villi sample or amniocentesis (waters examination).
gaucher disease TREATMENT
This disease is treatable with enzyme replacement therapy.
Pricing is extremely high, where the enzyme is administered intravenously, usually twice / week.
This treatments are very efficient in patients that not need a nerves complications.
To cope with possible anemia transfusion.
Surgery on the spleen performed for:
- Treat anemia
- Treating white blood cell count is low
- Treat low platelet counts
- Lessen the discomfort linked to an enlarged spleen.
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