Chediak-Higashi syndrome
Chediak-Higashi syndrome (pronunciation: che-dyak-hi-ga-shee syn-drome) is a rare autosomal recessive disorder that primarily affects the immune system. The syndrome is named after the two physicians, Cuban doctor Alejandro Moisés Chediak and Japanese doctor Otokata Higashi, who independently described the condition in the 1950s.
Etymology
The term "Chediak-Higashi" is derived from the names of the two physicians who first described the condition. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Symptoms
The symptoms of Chediak-Higashi syndrome can vary widely among affected individuals. They may include albinism, neurological problems, and a weakened immune system, which can lead to recurrent infections. Some individuals may also have bleeding disorders due to abnormal platelets.
Diagnosis
Diagnosis of Chediak-Higashi syndrome is typically based on the presence of characteristic clinical features and confirmed by genetic testing. The syndrome is caused by mutations in the LYST gene, which provides instructions for making a protein that plays a crucial role in the normal function of lysosomes.
Treatment
Treatment for Chediak-Higashi syndrome is focused on managing the symptoms and preventing complications. This may include antibiotics to treat infections, blood transfusions to treat bleeding disorders, and in severe cases, a bone marrow transplant may be considered.
Prognosis
The prognosis for individuals with Chediak-Higashi syndrome varies. Some individuals may have a normal lifespan with proper management of symptoms, while others may experience life-threatening complications in childhood.
See also
External links
- Medical encyclopedia article on Chediak-Higashi syndrome
- Wikipedia's article - Chediak-Higashi syndrome
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