Dai Wenjuan, Zhou Wenhao
Division of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
Transl Pediatr. 2023 Apr 29;12(4):749-767. doi: 10.21037/tp-22-369. Epub 2023 Apr 10.
Neonatal sepsis is a dysregulated host response to an infectious agent that results in severe morbidity and mortality among neonates worldwide. Given the complex and heterogenous nature of neonatal sepsis, early diagnosis and individualized treatment remain challenges for clinicians despite clinical advance. Epidemiological studies on twins suggest that hereditary factors act in conjunction with environmental factors to affect neonatal sepsis susceptibility. However, little is known about hereditary risks at present. This review aims to elucidate neonatal hereditary predisposition to sepsis and outline thoroughly the genomic landscape underlying neonatal sepsis, which may, to a large extent, facilitate precision medicine in this area.
PubMed was searched for all published literature relating to neonatal sepsis using Medical Subject Headings (MeSH) terms, with a focus on hereditary factors. Without any restriction on article type, articles published in English prior to June 1, 2022, were retrieved. Additionally, pediatric, adult, and animal- and laboratory-based studies were reviewed wherever possible.
This review provides a detailed introduction regarding the hereditary risk of neonatal sepsis in terms of genetics and epigenetics. Its findings demonstrate the potential for translation to precision medicine, where risk stratification, early diagnosis, and individualized interventions might be matched to the certain population.
This review delineates the comprehensive genomic landscape underpinning inherent susceptibility to neonatal sepsis, allowing future studies to integrate hereditary information into a routine protocol and drive precision medicine from the bench to the bedside.
新生儿败血症是宿主对感染因子的失调反应，在全球范围内导致新生儿严重发病和死亡。鉴于新生儿败血症的复杂性和异质性，尽管临床取得了进展，但早期诊断和个体化治疗对临床医生来说仍然是挑战。对双胞胎的流行病学研究表明，遗传因素与环境因素共同作用影响新生儿败血症易感性。然而，目前对遗传风险知之甚少。本综述旨在阐明新生儿败血症的遗传易感性，并全面概述新生儿败血症的基因组格局，这在很大程度上可能有助于该领域的精准医学。
使用医学主题词（MeSH）在PubMed中检索所有与新生儿败血症相关的已发表文献，重点关注遗传因素。检索2022年6月1日前以英文发表的文章，对文章类型无任何限制。此外，尽可能查阅儿科、成人以及基于动物和实验室的研究。
本综述从遗传学和表观遗传学方面详细介绍了新生儿败血症的遗传风险。其研究结果表明了向精准医学转化的潜力，即风险分层、早期诊断和个体化干预可能与特定人群相匹配。
本综述描绘了新生儿败血症内在易感性的全面基因组格局，使未来研究能够将遗传信息整合到常规方案中，并推动精准医学从实验室走向临床。
