Chediak-Higashi sendromu
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Date
2007
Authors
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Publisher
Uludağ Üniversitesi
Abstract
Chediak-Higashi sendromu (CHS) otozomal resesif geçen, birçok sistemi etkileyen nadir görülen bir hastalıktır. CHS1 geninde mutasyonlar 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 hızlanmış fazın komplikasyonlarına bağlı kaybedilir.
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 are seen 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.
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 are seen 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.
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Keywords
Chediak-Higashi sendromu, Hipopigmentasyon, İmmun yetmezlik, Chediak-Higashi syndrome, Hipopigmentation, Immunodeficiency
Citation
Karalı, Z. ve Kılıç, S. Ş. (2007). "Chediak-Higashi sendromu". Güncel Pediatri, 5(3), 99-104.