<\/span><\/h2>\nChediak-Higashi syndrome is a childhood disorder that interferes with the function of the immune system. Also known as Begnez-Cesar syndrome, White blood cell<\/span> albinism abnormality or defect in natural killer lymphocytes<\/span>.<\/p>\nIt was first described in 1943 by Dr. Beguez-Cesar. <\/p>\n
<\/span>Who gets Chediak-Higashi syndrome?<\/span><\/h2>\nChediak-Higashi syndrome is rare.<\/p>\n
\n- It is estimated that between 200 and 500 cases have been reported worldwide.<\/li>\n
- the incidence<\/span> It is the same in men and women.<\/li>\n
- It affects all races, but researchers suspect that its occurrence may be poorly reported.<\/li>\n<\/ul>\n
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<\/span>What causes Chediak-Higashi syndrome?<\/span><\/h2>\nChediak-Higashi syndrome is a autosomal<\/span> recessive condition caused by a mutation<\/span> about him LIST<\/em> gene<\/span>. Often due to parenthood consanguinity<\/span>. the LIST<\/em> gene affects the creation and maintenance of storage granules<\/span> and causes problems with the transport of a protein through cells.<\/p>\n\n<\/span>Genetics of Chediak-Higashi syndrome *<\/span><\/h5>\n<\/section>\n\n\n
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Chediak Higashi syndrome<\/p>\n<\/p><\/div>\n<\/section>\n
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* Image courtesy of Genetics 4 Medics<\/p>\n
<\/span>What are the clinical symptoms of Chediak-Higashi syndrome?<\/span><\/h2>\nSigns and symptoms begin to affect children with Chediak-Higashi syndrome shortly after birth or before age five.<\/p>\n
\n- Oculocutaneous albinism, or hypopigmentation<\/span> of the hair<\/span>, eyes and skin; hair is described as light colored with a metallic sheen<\/li>\n
- Prolonged bleeding and easy bruising due to platelet<\/span> abnormalities<\/li>\n
- Frequent viral bacterial<\/span> and fungal infections<\/li>\n
- Photosensitivity<\/span><\/li>\n
- Nystagmus: abnormal and involuntary eye movements<\/li>\n
- Numbness \/ tingling in the limbs due to peripheral<\/span> neuropathy<\/span>\n<\/li>\n
- Poor immunity due to abnormal function and the way of natural killer cells<\/span>\n<\/li>\n<\/ul>\n
The onset of Chediak-Higashi syndrome in adulthood is associated with milder symptoms. These may include:<\/p>\n
\n- Jaundice<\/span><\/li>\n
- Skin infections<\/li>\n
- \nRecurrent<\/span> sinus or respiratory tract infections<\/li>\n
- Enlarged lymph nodes<\/li>\n
- Gum disease (gingivitis)<\/li>\n
- \nHyperhidrosis<\/span> and miliaria\n<\/li>\n
- \nFever<\/span> without infection<\/span>.<\/li>\n<\/ul>\n
<\/span>Chediak-Higashi syndrome complications<\/span><\/h2>\nMost patients (about 80%) will undergo an accelerated phase of Chediak-Higashi syndrome. This phase is marked by the non-malignant reproduction of white blood cells in multiple organs of the body. This accelerated phase can be precipitate<\/span> by the presence of a viral infection, and is often fatal if it occurs in childhood. This phase is called hemophagocytic lymphohistiocytosis (HLH).<\/p>\n\n
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<\/span>How is Chediak-Higashi syndrome diagnosed?<\/span><\/h2>\nThe diagnosis of Chediak-Higashi syndrome is made by:<\/p>\n
\n- White blood cell test to detect the presence of large granules.<\/li>\n
- Light microscopy<\/span> hair to find pigment<\/span> agglomeration<\/li>\n<\/ul>\n
<\/span>How is Chediak-Higashi syndrome treated?<\/span><\/h2>\nTreatment for Chediak-Higashi syndrome may include:<\/p>\n
\n- \nCable<\/span> blood or bone marrow transplant<\/span>, which is considered the treatment of choice; it is more successful if it is done before a child reaches the accelerated phase of the disease<\/li>\n
- \nChemotherapy<\/span> it is necessary to put hemophagocytosis (the HLH phase) in remission<\/span> before a transplant can take place<\/li>\n
- Avoid exposure to sunlight and sun protection measures.<\/li>\n<\/ul>\n
<\/span>What is the prognosis for Chediak-Higashi syndrome?<\/span><\/h2>\nWithout treatment, the prospects for Chediak-Higashi syndrome are poor. About 50-85% of children with this disorder will enter the accelerated phase of HLH. This process is fatal without treatment and most patients will die at the age of 10 years.<\/p>\n<\/section>","protected":false},"excerpt":{"rendered":"
\u00bfQu\u00e9 es Chediak-Higashi? s\u00edndrome? El s\u00edndrome de Chediak-Higashi es un trastorno infantil que interfiere con la funci\u00f3n del sistema inmunitario. Tambi\u00e9n se conoce como s\u00edndrome de Begnez-Cesar, leucocito anomal\u00eda albinismo…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-6473","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/6473","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=6473"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/6473\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=6473"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=6473"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=6473"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}