Chediak-Higashi syndrome

Chediak-Higashi syndrome

Infobox_Disease
Name = Chédiak-Higashi syndrome


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 cats and orcasFact|date=June 2008.

Eponym

It is named for Moises Chédiak and Otokata Higashi. [WhoNamedIt|synd|1745] [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.]

Presentation

It is a disease with impaired bacteriolysiscite 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=] 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 oculocutaneous albinism. Persons are also prone for infections, especially with "Staphylococcus aureus".

Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.

ee also

* Griscelli syndrome (also known as "Chediak-Higashi like syndrome")

References


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • Chédiak–Higashi syndrome — Classification and external resources ICD 10 E70.3 (E70.340 ILDS) ICD 9 288.2 …   Wikipedia

  • Chediak-Higashi syndrome — Chediak Higashi syndrome. См. синдром Чедиак Хигаши. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Chédiak-Higashi syndrome — ▪ pathology       a rare inherited childhood disease characterized by the inability of white blood cells called phagocytes to destroy invading microorganisms.       Persons with Chédiak Higashi syndrome experience persistent or recurrent… …   Universalium

  • Chediak-Higashi syndrome — Che·diak Hi·ga·shi syndrome shād .yäk hē .gäsh ē n a genetic disorder inherited as an autosomal recessive and characterized by partial albinism, abnormal granules in the white blood cells, and marked susceptibility to bacterial infections… …   Medical dictionary

  • Chediak-Higashi syndrome — a rare fatal hereditary disease in children, inherited as an autosomal recessive condition, causing enlargement of the liver and spleen, albinism, and abnormalities of the eye. The cause is unknown but thought to be due to a disorder of… …   The new mediacal dictionary

  • chediak-higashi syndrome — shād¦yäkhē¦gäshē noun Usage: usually capitalized C&H Etymology: after Moises Chediak fl1952 French physician and Ototaka Higashi fl1954 Jap. physician : a genetic disorder inherited as an autosomal recessive and characterized by partial albinism …   Useful english dictionary

  • Chediak-Higashi syndrome — Autosomal recessive disorder characterized by the presence of giant lysosomal vesicles in phagocytes and in consequence poor bactericidal function. Some perturbation of microtubule dynamics seems to be involved. Reported from humans, albino… …   Dictionary of molecular biology

  • Syndrome de Chediak-Higashi — Autre nom Référence MIM …   Wikipédia en Français

  • Syndrome de chediak higashi — Autre nom Référence MIM …   Wikipédia en Français

  • Syndrome de Chediak Higashi — Référence MIM 214500 Transmission Récessive Chromosome 1q42.1 q42.2 Gène LYST Nombre d allèles pathologiques …   Wikipédia en Français

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”