Soto-Quintana Marisol, Alvarez-Nava Francisco, Rojas-Atencio Alicia, Granadillo Victor, Fernández Denny, Ocando Ana, López Ealys, Fulcado Waleska
Sección de Citogenética, Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Hospital Universitario, Apartado Postal 15066, Maracaibo, Estado Zulia, Venezuela.
Invest Clin. 2003 Mar;44(1):51-60.
Alterations of plasma levels of zinc and in the immune system in Down's syndrome (DS) have been reported. These alterations have been associated with a high rate of infectious diseases, which represent the main cause of mortality in affected individuals. The objectives of this study were to determine plasma zinc levels and to evaluate the immune system in DS patients. Peripheral blood samples were obtained from 43 DS patients examined at the Unidad de Genética Médica, Universidad del Zulia in Maracaibo, Venezuela. Their mean age (+/- SD) was 2.3 +/- 2.0 years. As control group, 40 healthy children were studied (mean +/- SD 2.3 +/- 2.0 years). Karyotypes by a standard technique, the determination of plasma levels of zinc by atomic absorption spectrophotometry and the evaluation of the immune system by flow cytometry were carried out in the study groups. All DS patients had free trisomy 21. Significantly disminished zinc plasma levels, helper T lymphocyte (CD4) percentage, helper/cytotoxic (CD4/CD8) ratio and B-cells (CD19) were found in DS patients by matching with control group. An increase in CD8 was also found. No significative difference in the lymphocyte subpopulations between DS patients with disminished plasma levels of zinc and DS patients with normal zinc were found. These findings suggest that zinc deficiency is not the sole etiology involved in the disorders of immune system seen in DS patients. Other factors, such as thymic alterations and molecular abnormalities due to gene overexpression of loci located on chromosome 21 could be involved. Although, zinc supplementation is recommended in these patients with zinc deficiency, further studies with a double-blind, placebo versus zinc design are needed to evaluate the potentially beneficial effects of zinc treatment in DS patients.
据报道,唐氏综合征(DS)患者血浆锌水平及免疫系统存在改变。这些改变与传染病高发有关,而传染病是该疾病患者死亡的主要原因。本研究的目的是测定DS患者的血浆锌水平并评估其免疫系统。从委内瑞拉马拉开波市苏利亚大学医学遗传学单位检查的43例DS患者中采集外周血样本。他们的平均年龄(±标准差)为2.3±2.0岁。作为对照组,研究了40名健康儿童(平均±标准差2.3±2.0岁)。对研究组进行了标准技术核型分析、原子吸收分光光度法测定血浆锌水平以及流式细胞术评估免疫系统。所有DS患者均为游离型21三体。与对照组相比,DS患者的血浆锌水平、辅助性T淋巴细胞(CD4)百分比、辅助/细胞毒性(CD4/CD8)比值和B细胞(CD19)显著降低。CD8也有所增加。血浆锌水平降低的DS患者与血浆锌水平正常的DS患者在淋巴细胞亚群方面未发现显著差异。这些发现表明,锌缺乏并非DS患者免疫系统紊乱的唯一病因。可能还涉及其他因素,如胸腺改变以及21号染色体上基因位点过表达导致的分子异常。尽管建议对这些锌缺乏患者进行补锌治疗,但仍需要采用双盲、安慰剂对照与补锌对照设计的进一步研究来评估锌治疗对DS患者的潜在有益效果。