Giubergia Verónica, Salim Maximiliano, Fraga Jesica, Castiglioni Nicolás, Sen Luisa, Castaños Claudio, Mangano Andrea
Pulmonology Department, Prof. Dr. Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina.
Biology Cellular and Retrovirus Laboratory, Prof. Dr. Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina.
Respirology. 2015 Aug;20(6):982-6. doi: 10.1111/resp.12547. Epub 2015 May 4.
Post-infectious bronchiolitis obliterans (PIBO) is a severe disorder following acute lower pulmonary infection in young children, especially caused by adenovirus. Mannose-binding lectin (MBL) deficiency arising from polymorphisms in the coding and non-coding region on the MBL2 gene has been associated with more frequent and severe respiratory infections. Our aim was to evaluate the influence of MBL variants in the susceptibility and evolution of children with PIBO.
One hundred eleven children with PIBO diagnosis were studied. The coding A, B, D and X promoter variants of MBL2 gene were assessed by PCR-RFLP. B and D alleles were pooled as O. The combined genotypes A/A and YA/O were grouped as sufficient MBL (sMBL), and O/O and XA/O as insufficient MBL (iMBL) groups. To evaluate the frequency of MBL2 polymorphisms in the general population, we studied DNA samples from 127 healthy donors from the blood bank of the hospital (control group).
iMBL variants were significantly more frequent in PIBO children compared with controls (21.6% vs 10.2%, P = 0.01). PIBO patients with iMBL required intensive care unit (P = 0.001) and mechanical assistance at the moment of viral injury (P = 0.001) more frequently than those with sMBL.
Insufficiency of MBL was more common in PIBO children than in healthy controls. This genetic condition was significantly associated with more severe initial disease, illustrating the relevance of innate immune defence factors prior to the maturation of the adaptative immune system.
感染后闭塞性细支气管炎（PIBO）是幼儿急性下呼吸道感染后的一种严重疾病，尤其是由腺病毒引起的。MBL2基因编码区和非编码区多态性导致的甘露糖结合凝集素（MBL）缺乏与更频繁和严重的呼吸道感染有关。我们的目的是评估MBL变异对PIBO患儿易感性和病情演变的影响。
对111例诊断为PIBO的患儿进行研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法评估MBL2基因的编码A、B、D和X启动子变异。B和D等位基因合并为O。A/A和YA/O合并基因型归为MBL充足（sMBL）组，O/O和XA/O归为MBL不足（iMBL）组。为评估MBL2多态性在一般人群中的频率，我们研究了来自医院血库的127名健康供者的DNA样本（对照组）。
与对照组相比，PIBO患儿中iMBL变异明显更常见（21.6%对10.2%，P = 0.01）。与sMBL患儿相比，iMBL的PIBO患者在病毒感染时更频繁地需要重症监护病房（P = 0.001）和机械辅助（P = 0.001）。
MBL不足在PIBO患儿中比健康对照组更常见。这种遗传状况与更严重的初始疾病显著相关，说明了在适应性免疫系统成熟之前先天免疫防御因子的相关性。
