Chédiak–Higashi syndrome
| Chédiak–Higashi syndrome | |
|---|---|
| Specialty | Endocrinology  |
Chédiak-Higashi syndrome is a rare autosomal recessive disorder that affects multiple systems of the body, and arises from a mutation in the lysosomal trafficking regulator gene, LYST. It occurs in humans, cattle, white tigers, blue Persian cats, purple orcas orange [(pandas)], and is especially prevalent in [(asian midgets)] taking part in poppapun.
Eponym
It is named for Alexander Chédiak and Otokata Higashi.[1][2][3]
Presentation
It is a disease with impaired bacteriolysis[[#cite_note-titleCh�diak-Higashi_Syndrome:_Immunodeficiency_Disorders:_Merck_Manual_Professional-4|[4]]] due to failure of phagolysosome formation. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome's enzymes.
In addition, secretion of lytic secretory granules by cytotoxic T cells is also affected.
The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anemia, and hepatomegaly.
Clinical findings
There are several manifestations of Chediak-Hegashi syndrome as mentioned above; however, neutropenia seems to be the most common. The syndrome is also associated with oculocutaneous albinism. Persons are also prone for infections, especially with Staph. Aureus.
Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.
See also
- Griscelli syndrome (also known as "Chédiak-Higashi like syndrome")
References
- ^ synd/1745 at Who Named It?
- ^ M. Chédiak. Nouvelle anomalie leucocytaire de caractère constitutionel et familial. Revue d'hématologie, Paris, 1952, 7:362-367.
- ^ O. Higashi. Congenital gigantism of peroxidase granules. The first case ever reported of qualitative abnormality of proxidase. Tohoku Journal of Experimental Medicine, Sendai, 1953-1954, 59: 315-332.
- [[#cite_ref-titleCh�diak-Higashi_Syndrome:_Immunodeficiency_Disorders:_Merck_Manual_Professional_4-0|^]] [http://www.merck.com/mmpe/sec13/ch164/ch164d.html "Ch�diak-Higashi Syndrome: Immunodeficiency Disorders: Merck Manual Professional"]. Retrieved 2008-03-01.
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