What is Hunter syndrome

Hunter Syndrome

I’m just read local newspaper about this syndrome. I’ve heard about this syndrome before and it is important to know about it. This syndrome is a genetic disorder disease that inherited through X-linked recessive. This syndrome is rarely happen. It is due to the lack or absence of the enzyme called iduronate-2-sulfatase (I2S) in the body.
Children who have Hunter syndrome have problems to solve and this molecule will cause permanent damage that occurs on an ongoing basis and affect the appearance, the development of mental illness, organ function and physical abilities. This syndrome appears to children as young as two years and usually occurs in boys. For some patients, it causes physical changes in facial features and head size (becomes larger)

Hunter Syndrome
Signs and symptoms Hunter syndrome

1. Affected the development of skills (applicable when the old one and a half to three years)
2. Coarse facial features, thick lips, tongue and nose to be big
3. Big nose.
4. Hands and fingers bent
5. Protruding tongue
6. Size or shape of the bones to become abnormally
7. Internal organs such as liver and enlarged spleen caused distended stomach
8. Experience difficulty in breathing, including sleep apnea (breathing stops while sleeping)
9. Natural disturbances, such as heart valves thick, high blood pressure and clogged blood vessels to the heart.
10. Lost sight slowly due to damage cells that capture light and a collection of complex molecules in the brain causing pressure on the optic and eye full.
11. Lesions on the skin at the back and upper arms.

Early detection and treatment hunter syndrome

1.  Parents need to be sensitive to changes in facial features of children. For confirmation, do blood tests, urine or tissue.
2.  If children have frequent lung infections, do tests. It will show the bones of the vertebrae and ribs are not normal.
3.  Enzyme replacement therapy is a treatment available but its cost RM1 million a year for the patient. Therefore, given the usual treatment is to manage symptoms and provide relief to patients.
4.  Transplant marrow is also said to help the patient.

This disease is dangerous and most times people just can not live more than 10 years.

For more info you could go to the HunterPatients.com

Be the first to comment

Leave a Reply

Your email address will not be published.


*


This site uses Akismet to reduce spam. Learn how your comment data is processed.