Höyhtyä Miikka, Haaramo Anu, Nikkonen Anne, Ventin-Holmberg Rebecka, Agrawal Nitin, Ritari Jarmo, Hickman Brandon, Partanen Jukka, Alapulli Heikki, Tuokkola Jetta, Salonen Anne, de Vos Willem M, Kolho Kaija-Leena
Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Department of Otorhinolaryngology, Head and Neck Surgery, Helsinki University Hospital HUS and University of Helsinki, Helsinki, Finland.
Sci Rep. 2025 Feb 19;15(1):6020. doi: 10.1038/s41598-025-90243-5.
Orofacial granulomatosis (OFG) is a rare chronic inflammatory condition. It is under debate, whether it is a condition of its own or merely a subtype of Crohn's disease (CD). We aimed to search for markers characteristic of patients with pediatric-onset OFG compared to patients with pediatric-onset CD. We recruited young patients with OFG (with or without CD, n = 29), CD (n = 24), and healthy controls (n = 20). All participants provided a fecal sample for microbiota and calprotectin analyses and saliva for DNA analysis of genes associated with OFG and kept a 3-day food diary. Oral disease activity was evaluated using The Oral Disease Activity Score by an otorhinolaryngologist and a dentist. We observed decreased relative abundance in class Clostridia and increased relative abundances of classes Actinobacteria and Bacilli in the feces of patients with OFG when compared to patients with CD and healthy controls. The relative abundances of Bifidobacterium adolescentis increased and Faecalibacterium prausnitzii decreased along with the increase in the Oral Disease Activity Score. We found the NOD2 gene rs8057341 allele A to be enriched in patients with OFG compared to patients with CD. These findings support the theory that OFG is a distinct disease phenotype.
口面部肉芽肿病（OFG）是一种罕见的慢性炎症性疾病。它究竟是一种独立的疾病，还是仅仅是克罗恩病（CD）的一个亚型，仍存在争议。我们旨在寻找儿童期发病的OFG患者与儿童期发病的CD患者相比具有特征性的标志物。我们招募了患有OFG（有或无CD，n = 29）、CD（n = 24）的年轻患者以及健康对照（n = 20）。所有参与者都提供了粪便样本用于微生物群和钙卫蛋白分析，以及唾液用于与OFG相关基因的DNA分析，并记录了3天的饮食日记。由耳鼻喉科医生和牙医使用口腔疾病活动评分来评估口腔疾病活动度。与CD患者和健康对照相比，我们观察到OFG患者粪便中梭菌纲的相对丰度降低，而放线菌纲和芽孢杆菌纲的相对丰度增加。随着口腔疾病活动评分的增加，青春双歧杆菌的相对丰度增加，而普拉梭菌的相对丰度降低。与CD患者相比，我们发现OFG患者中NOD2基因rs8057341的A等位基因富集。这些发现支持了OFG是一种独特疾病表型的理论。
