Clinical aspects and main diagnostic methods of Chediak-Higashi syndrome
DOI:
https://doi.org/10.22491/2357-9730.107792Keywords:
Chediak, Differential Diagnosis, Cytoplasmic Granules, Higashi, NeutrophilsAbstract
Chediak-Higashi Syndrome is a pathology caused by a mutation in the LYST gene, characterized by immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from neutrophil changes. Homozygotes die in the first decade of life. The study is about literature review from different sources, with articles extracted from the SciELO, LILACS, MEDLINE, Google Scholar, and PubMed databases, published between 2000 and 2018, the main objective was to report the pathophysiology, the clinic, and the most known diagnostic methods. The syndrome affects the hematological and neurological systems, and the first laboratory diagnosis is by the verification of giant granules in leukocytes, mainly neutrophils in the peripheral blood and bone marrow. The definitive diagnosis is made by cytochemical reaction (myeloperoxidase) and detection of mutation by molecular methods.
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