Chédiak-Higashi syndrome
2476442
218594255
2008-06-11T10:05:25Z
SmackBot
433328
Date the maintenance tags or general fixes
{{Infobox_Disease |
Name = Chédiak-Higashi syndrome |
Image = |
Caption = |
DiseasesDB = 2351 |
ICD10 = {{ICD10|E|70|3|e|70}} (E70.340 [[ILDS]]) |
ICD9 = {{ICD9|288.2 }} |
ICDO = |
OMIM = 214500 |
MedlinePlus = |
eMedicineSubj = derm |
eMedicineTopic = 704 |
MeshID = D002609 |
}}
'''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 cat]]s and [[orcas]]{{Fact|date=June 2008}}.
==Eponym==
It is named for [[Alexander Chédiak]] and [[Otokata Higashi]].<ref>{{WhoNamedIt|synd|1745}}</ref><ref>M. Chédiak. Nouvelle anomalie leucocytaire de caractère constitutionel et familial. Revue d'hématologie, Paris, 1952, 7:362-367. </ref><ref>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.</ref>
==Presentation==
It is a disease with impaired [[bacteriolysis]]<ref name="titleCh�diak-Higashi Syndrome: Immunodeficiency Disorders: Merck Manual Professional">{{cite web |url=http://www.merck.com/mmpe/sec13/ch164/ch164d.html |title=Ch�diak-Higashi Syndrome: Immunodeficiency Disorders: Merck Manual Professional |accessdate=2008-03-01 |format= |work=}}</ref> 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 Chédiak-Hegashi syndrome as mentioned above; however, [[neutropenia]] seems to be the most common. The syndrome is also associated with [[Albinism|oculocutaneous albinism]]. Persons are also prone for infections, especially with ''Staphylococcus aureus''.
Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.
==See also==
* [[Griscelli syndrome]] (also known as "Chediak-Higashi like syndrome")
==References==
{{reflist}}
{{Immune disorders}}
{{DEFAULTSORT:Chediak-Higashi syndrome}}
[[Category:Pediatrics]]
[[Category:Dermatology]]
[[Category:Rare diseases]]
[[Category:Genetic disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Syndromes]]
[[Category:Albinism]]
{{disease-stub}}
{{genetics-stub}}
[[de:Chediak-Higashi-Syndrom]]
[[fr:Syndrome de Chediak Higashi]]
[[ja:チェディアック・東症候群]]
[[pl:Zespół Chediaka-Higashiego]]