Chediak-Higashi Sendromu

Chediak-Higashi sendromu CHS otozomal resesif geçen, birçok sistemi etkileyen nadir görülen bir hastalıktır. CHS1 genindemutasyonlar saptanmıştır. Klinik olarak ciltte ve saçta hipopigmentasyon, uzamış kanama zamanı, immun yetmezlik, tekrarlayan enfeksiyonlar, nörolojik anormalliklerle karakterizedir. Periferik lökositlerde ve diğer hücrelerde dev granüller görülür.Kök hücre transplantasyonu bazılarında başarılı olmuştur. Hastalar genellikle piyojenik enfeksiyon, kanama, ve hızlanmışfazın komplikasyonlarına bağlı kaybedilir

Anahtar Kelimeler:

Chediak-Higashi sendromu, hipopigmentasyon, immun yetmezlik

Chediak-Higashi Syndrome

Chediak-Higashi syndrome CHS is a rare autosomal recessive disorder that affects multiple systems of the body.Mutations have been found in the CHS1 gene. This disorder characterized by hypopigmentation of the skin and hair; prolonged bleeding time; immunodeficiency; recurrent infections; neurologic abnormalites. Abnormally large granules areseen in peripheral leukocytes and many other cell types. Stem cell transplantation has been found successfull in some patients. Patients die usually from pyogenic infection, hemorrhage or complications of the accelerated phase

Keywords:

Chediak-Higashi syndrome, hipopigmentation, immunodeficiency,

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