21 三体综合征新生儿的 TREC 和 KREC 水平降低。

IF 2.1 3区 医学 Q2 PEDIATRICS
Frontiers in Pediatrics Pub Date : 2024-10-17 eCollection Date: 2024-01-01 DOI:10.3389/fped.2024.1468635
Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev
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引用次数: 0

摘要

新生儿重症联合免疫缺陷(SCID)筛查(NBS)已被广泛实施,以实现早期检测和干预。21 三体综合征,俗称唐氏综合征(DS),由于常伴有 T 和/或 B 细胞淋巴细胞减少症,给 NBS 带来了独特的挑战。最近在俄罗斯开展的新生儿基础营养筛查试点项目旨在通过测量TREC和KREC来识别严重的T细胞和B细胞缺陷。本研究旨在评估参与试点计划的新生儿中 DS 的发病率,评估他们的 TREC 和 KREC 值,并确定通过 T/B 淋巴细胞减少 NBS 可能识别出的 DS 新生儿的比例。我们对新生儿筛查试点项目中获得的数据进行了回顾性分析,涉及俄罗斯八个地区的 202,908 名新生儿。研究在筛查人群中发现了 157 名 21 三体综合征患者,DS 出生率为 1:1,284。DS 患者中足月亚组和早产亚组的 TREC 和 KREC 中位值没有明显差异。DS新生儿的TREC值有所下降,与极早产新生儿的TREC值相当。无论胎龄大小,DS 新生儿的 KREC 值与普通人群相比也有显著差异。我们的数据表明T细胞系和B细胞系发育异常,需要进一步研究。这篇文章强调了提高对与DS相关的内在免疫缺陷认识的必要性。研究结果强调了医疗团队为 DS 患者提供持续跟踪和全面支持的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Decreased TREC and KREC levels in newborns with trisomy 21.

Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in NBS due to its frequent association with T and/or B cell lymphopenia. The pilot NBS screening program recently conducted in Russia was aimed to identify both severe T and B cell deficiencies by measuring TREC and KREC. This study aims to evaluate the incidence of DS in newborns who participated in the pilot program, assess their TREC and KREC values, and determine the proportion of DS newborns potentially identifiable through T/B lymphopenia NBS. We conducted a retrospective analysis of the data obtained during the pilot NBS program, involving 202,908 newborns from eight regions of Russia. The study identified 157 patients with trisomy 21 among the screened cohort, resulting in a DS birth prevalence of 1:1,284. Median TREC and KREC values did not significantly differ between full-term and pre-term subgroups of DS patients. TREC values in DS newborns were decreased and comparable to those of the extremely preterm newborns. DS newborns also demonstrated significant differences in KREC values as compared to the general cohort regardless of gestational age. Our data suggests abnormalities of T- and B-cell lineages development and requires further investigation. This article highlights the need for increased awareness of the intrinsic immunological defects associated with DS. The findings underscore the importance of continued follow-up and comprehensive support by healthcare teams for individuals with DS.

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来源期刊
Frontiers in Pediatrics
Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.60
自引率
7.70%
发文量
2132
审稿时长
14 weeks
期刊介绍: Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.
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