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Get to know "Gosher", a rare geneticxo walletdisease found in Thailand, at risk of life threatening from childhood. But found in adults as well
What is Gosher disease?
Genetic Medicine Group And the LSD Genetic Disease Foundation states that Gaucher Disease is a rare genetic disease with an incidence of less than 1 per 100,000 population. Brosides are defective.

The disease is most likely to occur in people with both parents. Without knowing that he was a carrier because the carrier showed no symptoms But can pass abnormal genes to their offspring Causing a 25% chance of having children with the disease in every pregnancy

Gosher syndrome symptoms
The nature of the disease includes

Enlarged liver symptoms
Enlarged spleen
pale
Low blood platelets, making bleeding easy
Low white blood cells
Thin bone
Ischemic bone
Bone pain
Broken bone
If you are sick with type 2 or type 3 Gosher, you will have abnormal eye muscles. And brain symptoms can be associated with such as seizures, strabismus, slow development, or worsening development.
Gosher disease treatment
Type II Gocher patients usually die at the age of less than 2 years, according to Thailand data, the third type is usually the third type and the second is type 1, so the patient should be diagnosed with a doctor. And fast Including an early enzyme replacement drug To help treat symptoms That happened to return to normal At the same time, the bone marrow transplantation treatment This is another treatment approach to reduce the risk of developing neurological symptoms later. In addition, Gosher drugs have already been included in the NHSO main drug list. Thus making it easier for patients in Thailand to access Gosher disease treatment.

Professor Dr. Duangrudee Wattanasirichaikun Head of Genetic Medicine Department of Pediatrics Ramathibodi Hospital Mahidol University revealed that Gosher disease is caused by a faulty gene. Causing the body to lack enzymes There are currently 3 methods of treatment:

How to give enzyme replacement every 2 weeks for the rest of your life.
Bone marrow or blood stem cell transplant methods So that the body can make its own enzymes And can be cured from Gosher disease
Substrate Reduction Therapy (SRT) drugs to reduce the buildup of precursors that are harmful to the body cells.
In Thailand, most cases are relatively severe, and therefore enzyme therapy and bone marrow transplantation are often used, whereas SRT drugs are suitable for mild Gocher 1. And no drugs have been imported into Thailand Nowadays, cases of less severe adult Gosher disease have been identified. It is interesting to see if the future might bring SRT drugs to this group of patients in Thailand or not.

But with medical innovation Causing research studies to find new treatments, including

Gene Therapy, or Gene Therapy, is the body's own production of enzymes by modifying the abnormal genetic makeup to return to work. Using their own cells Immunotherapy is not required and is completely cured. Will this method prevent brain symptoms better than bone marrow transplantation? No one knows yet. It is not yet known when the success and realization of Gosher disease is possible. Although there are currently many genetic diseases that can be cured with gene therapy. It is the hope that in the future Gosher It may be able to be treated with this method as well.

The invention of a drug called Chaperone Therapy was a method that did not require gene manipulation. Rather, it helps the abnormal enzymes work better enough to reduce the severe symptoms of the disease. Which is still in the research stage
Diagnosis of Gosher Disease Considered to be very outstanding in the Biomarker or biomarkers. Originally diagnosed Gosher By using enzymes and testing the genes, Biomarker diagnosis is very accurate. Can clearly identify who has the disease or not. And can also be used to monitor treatment results In foreign countries, it is already used as a guideline, and it is expected that in Thailand, biomarker diagnostics will be started next year, likely starting from Ramathibodi Hospital. Because genes are identified in the Gosher type Can check who is the carrier Including examination of the fetus Or can plan to prevent having a child with the disease

However, there are still significant challenges in raising awareness and awareness of Gosher disease. Number of patients spread across the country And general doctors still do not understand Gosher disease Therefore, proactive work and cooperation is essential to the effective diagnosis and treatment of Gosher disease. This post was edited by JIRAPORN NONNOILL at February 5, 2021 1:58 AM MST