Lattuada Martina, Capitoli Giulia, Casati Marco, Lazzerotti Alessandra, Maglia Oscar, Ferrari Giulia Maria, Fossati Chiara, Biondi Andrea, Cattoni Alessandro, Corti Paola
School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
Department of Medicine and Surgery, Bicocca Bioinformatics Biostatistics and Bioimaging Research Centre-B4, University of Milano-Bicocca, Monza, Italy.
Front Pediatr. 2024 Dec 11;12:1510733. doi: 10.3389/fped.2024.1510733. eCollection 2024.
Down syndrome (DS) is linked to unique hematopoietic characteristics that affect complete blood count (CBC) parameters. Accurate reference ranges are essential for proper CBC interpretation in this population.
This retrospective study analyzed 2,627 CBCs from 481 DS patients, aged 31 days to 18 years, at a tertiary care center in Italy. Patients with significant comorbidities were excluded to ensure a homogeneous group.
CBC parameters were assessed to establish age- and sex-specific reference ranges. Centile charts were developed for each parameter, and an online tool was created to allow clinicians to compare individual CBC results with the new ranges. Comparisons with the general pediatric population revealed significant differences, particularly in hemoglobin, hematocrit, and mean corpuscular volume, which were higher in DS ( < 0.001). In contrast, a significant percentage of CBCs showed white blood cell counts below the 2.5th centile of healthy controls ( < 0.001), except for the 31 days-1 year age group. A similar trend was observed for lymphocytes ( < 0.001) in the 1-18 years group.
These newly established DS-specific reference ranges provide clinicians with a crucial tool for evaluating CBC results, potentially reducing unnecessary tests and emphasizing the need for tailored clinical assessment in managing this unique population.
唐氏综合征（DS）与影响全血细胞计数（CBC）参数的独特造血特征相关。准确的参考范围对于该人群中CBC结果的正确解读至关重要。
这项回顾性研究分析了意大利一家三级医疗中心481例年龄在31天至18岁之间的DS患者的2627份CBC结果。排除有严重合并症的患者以确保研究组的同质性。
对CBC参数进行评估以建立年龄和性别特异性参考范围。为每个参数绘制了百分位图，并创建了一个在线工具，使临床医生能够将个体CBC结果与新范围进行比较。与一般儿科人群的比较显示出显著差异，尤其是血红蛋白、血细胞比容和平均红细胞体积，DS患者的这些指标更高（<0.001）。相比之下，除31天至1岁年龄组外，相当比例的CBC结果显示白细胞计数低于健康对照的第2.5百分位（<0.001）。在1至18岁年龄组中，淋巴细胞也观察到类似趋势（<0.001）。
这些新建立的DS特异性参考范围为临床医生评估CBC结果提供了关键工具，可能减少不必要的检查，并强调在管理这一特殊人群时进行针对性临床评估的必要性。
