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首页> 外文期刊>Sao Paulo Medical Journal >Chédiak-Higashi syndrome: presentation of seven cases
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Chédiak-Higashi syndrome: presentation of seven cases

机译：Chédiak-Higashi综合征：7例表现

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CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Crian?a, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.
机译：语境：Chédiak-Higashi综合征（CHS）是一种罕见的常染色体隐性遗传病，其特征在于反复感染，巨细胞质颗粒和眼皮肤白化病。目的：描述CHS患者的临床和实验室检查结果。设计：病例报告。地点：这些患者被送往第三级公共护理机构达克里安研究所的过敏和免疫学科。病例报告：7例患者出现了眼白化病，反复感染和白细胞巨细胞质颗粒。一名患者的IgG水平低，三名患者的嗜中性粒细胞杀菌活性受损。在加速阶段有6名患者死于感染性并发症。治疗方法包括抗坏血酸和抗生素。在两名患者中，化学疗法用于加速期。提议对一名患者进行骨髓移植（BMT）。讨论：作者强调需要对CHS进行早期诊断和治疗。在疾病的加速发展阶段之前应指出BMT。

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