Clinical aspects and main diagnostic methods of Chediak-Higashi syndrome

Clinical aspects and main diagnostic methods of Chediak-Higashi syndrome

dc.creatorOliveira, Poliana Paula de
dc.creatorColli, Vilma Clemi
dc.date2021-12-08
dc.date.accessioned2022-10-04T21:04:55Z
dc.date.available2022-10-04T21:04:55Z
dc.identifierhttps://seer.ufrgs.br/index.php/hcpa/article/view/107792
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/3865750
dc.descriptionChediak-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.en-US
dc.descriptionChediak-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.pt-BR
dc.formatapplication/pdf
dc.languageeng
dc.publisherHCPA/FAMED/UFRGSpt-BR
dc.relationhttps://seer.ufrgs.br/index.php/hcpa/article/view/107792/pdf
dc.rightsCopyright (c) 2021 Clinical and Biomedical Researchpt-BR
dc.sourceClinical & Biomedical Research; Vol. 41 No. 4 (2021)en-US
dc.sourceClinical and Biomedical Research; v. 41 n. 4 (2021)pt-BR
dc.source2357-9730
dc.subjectChediakpt-BR
dc.subjectDifferential Diagnosispt-BR
dc.subjectCytoplasmic Granulespt-BR
dc.subjectHigashipt-BR
dc.subjectNeutrophilspt-BR
dc.subjectHematologypt-BR
dc.subjectGeneticspt-BR
dc.subjectChediaken-US
dc.subjectDifferential Diagnosisen-US
dc.subjectCytoplasmic Granulesen-US
dc.subjectHigashien-US
dc.subjectNeutrophilsen-US
dc.subjectHematologyen-US
dc.subjectGeneticsen-US
dc.titleClinical aspects and main diagnostic methods of Chediak-Higashi syndromeen-US
dc.titleClinical aspects and main diagnostic methods of Chediak-Higashi syndromept-BR
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typePeer-reviewed Articleen-US
dc.typeAvaliados por Parespt-BR


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