Chediak-Higashi Syndrome
Chediak-Higashi Syndrome (pronunciation: che-dyak-hi-ga-shee syn-drome) is a rare genetic disorder that affects multiple systems of the body. The syndrome is characterized by a reduced ability of certain immune system cells to kill bacteria and other foreign cells, leading to a higher susceptibility to infections.
Etymology
The syndrome is named after the two doctors who first described it, Cuban doctor Beguez Chediak in 1952 and Japanese doctor Otokata Higashi in 1954.
Symptoms
The symptoms of Chediak-Higashi Syndrome can vary greatly among individuals. They may include albinism, neurological disorders, immune deficiency, and a predisposition to infections.
Causes
Chediak-Higashi Syndrome is caused by mutations in the LYST gene, which is involved in the regulation of lysosomes. These mutations lead to the formation of abnormally large lysosomes, which impair the function of certain immune cells.
Diagnosis
Diagnosis of Chediak-Higashi Syndrome is typically based on the presence of characteristic clinical findings, specialized laboratory tests, and confirmed by molecular genetic testing.
Treatment
Treatment for Chediak-Higashi Syndrome is typically focused on managing the symptoms and preventing complications. This may include antibiotic therapy to treat or prevent infections, and in severe cases, bone marrow transplant may be considered.
Prognosis
The prognosis for individuals with Chediak-Higashi Syndrome varies. Some individuals have a milder form of the disorder and live into adulthood, while others with a more severe form may not survive past childhood.
See Also
External links
- Medical encyclopedia article on Chediak-Higashi Syndrome
- Wikipedia's article - Chediak-Higashi Syndrome
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