Świerzko Anna S, Szala-Poździej Agnieszka, Kilpatrick David C, Sobociński Michał, Chojnacka Karolina, Sokołowska Anna, Michalski Mateusz, Mazerant Karolina, Jensenius Jens C, Matsushita Misao, Krajewski Wojciech R, Szczapa Jerzy, Bąk-Romaniszyn Leokadia, Zeman Krzysztof, Cedzyński Maciej
Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, Lodowa 106, 93-232 Lodz, Poland.
Scottish National Blood Transfusion Service, National Science Laboratory, Ellen's Glen Road, Edinburgh, EH17 7QT Scotland, UK.
Immunobiology. 2016 May;221(5):657-69. doi: 10.1016/j.imbio.2016.01.003. Epub 2016 Jan 15.
Infections are a major cause of childhood mortality. We investigated components of the lectin pathway of complement activation in the context of sepsis at both genetic and protein levels in neonates, infants and older children. Major components of the lectin pathway and two genes for Toll-like receptors were studied in 87 neonates with confirmed sepsis and compared with 40 babies with infections who did not develop sepsis (disease controls) and 273 infection-free neonatal controls. A second cohort comprised 47 older children with sepsis and 87 controls. Low MBL-conferring genotypes (LXA/O+O/O) were more frequent in sepsis patients than in healthy controls but no significant differences in the frequency of SNPs of other lectin pathway genes (FCN1, FCN2, FCN3, MASP1/3, MASP2) or TLR receptor genes (TLR2, TLR4) were found. One case of primary MASP-2 deficiency was found among healthy pre-terms and one neonate suffering from SIRS was heterozygous for the rare FCN1 gene mutation, +6658 G>A. Generally, sepsis was associated with low serum MBL and low ficolin-2 concentrations on admission. Among neonates, ficolin-1 and MASP-2 levels were elevated in sepsis relative to healthy, but not disease, controls. Unlike neonates, ficolin-3 and MASP-2 levels were lower in older patients than in healthy controls while no difference was found for ficolin-1. With the possible exception of MBL, inherited lectin pathway insufficiencies do not seem to predispose to sepsis, rather changes in protein concentrations reflect alterations in disease course.
感染是儿童死亡的主要原因。我们在新生儿、婴儿和大龄儿童中,从基因和蛋白质水平研究了脓毒症背景下补体激活凝集素途径的组成部分。在87例确诊脓毒症的新生儿中研究了凝集素途径的主要组成部分以及两个Toll样受体基因,并与40例未发生脓毒症的感染婴儿(疾病对照)和273例无感染的新生儿对照进行比较。第二个队列包括47例脓毒症大龄儿童和87例对照。脓毒症患者中低MBL基因型(LXA/O+O/O)比健康对照更常见,但未发现其他凝集素途径基因(FCN1、FCN2、FCN3、MASP1/3、MASP2)或TLR受体基因(TLR2、TLR4)的单核苷酸多态性频率有显著差异。在健康早产儿中发现1例原发性MASP-2缺乏症,1例患全身炎症反应综合征的新生儿为罕见的FCN1基因突变+6658 G>A的杂合子。一般来说,脓毒症患者入院时血清MBL和纤维胶凝蛋白-2浓度较低。在新生儿中,脓毒症患者的纤维胶凝蛋白-1和MASP-2水平相对于健康对照升高,但相对于疾病对照未升高。与新生儿不同,大龄患者的纤维胶凝蛋白-3和MASP-2水平低于健康对照,而纤维胶凝蛋白-1水平未发现差异。除MBL可能外,遗传性凝集素途径功能不全似乎不会导致脓毒症,蛋白质浓度的变化反映了疾病进程的改变。