Intestinal research · 2026
Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study.
СтатьяНазвание и аннотация: Перевод в очереди
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Ito Natsuki, Kudo Takahiro, Jimbo Keisuke, Nambu Ryusuke, Kakuta Fumihiko, Mizuochi Tatsuki, Saito Takeshi, Hagiwara Shin-Ichiro, Iwata Naomi, Tachibana Nao, Kumagai Hideki, Ishige Takashi, Yodoshi Toshifumi, Inoue Mikihiro, Nishimata Shigeo, Tajiri Hitoshi, Hiejima Eitaro, Sasaki Mika, Kato Sawako, Shimizu Hirotaka, Hirano Yuri, Shimizu Toshiaki, Arai Katsuhiro, Japanese Pediatric Inflammatory Bowel Disease Registry (JPIBD-R)
Аннотация
BACKGROUND/AIMS: Very early-onset inflammatory bowel disease (VEO-IBD), defined as IBD diagnosed before 6 years of age, is highly influenced by genetic factors. Monogenic IBD is a type of enterocolitis caused by a single pathogenic variant. However, information on Asian patients with VEO-IBD and monogenic IBD is limited. This study investigated real-world data on VEOIBD and monogenic IBD in Japan.
METHODS: We evaluated patients with VEO-IBD registered in the Japanese Pediatric Inflammatory Bowel Disease Registry, a multicenter prospective registry study conducted between 2012 and 2021. We categorized patients into monogenic and non-monogenic IBD groups and compared their clinical characteristics and outcomes.
RESULTS: Among 703 pediatric patients with IBD, 68 (9.7%) had VEO-IBD. Of these, 26 (38.2%) had ulcerative colitis, 16 (23.5%) had Crohn's disease, 23 (33.8%) had unclassified IBD (IBD-U), and 3 (4.4%) had Behçet's disease. Genetic testing was performed in 25 patients (36.8%), and monogenic IBD was identified in 5 of the 23 patients with IBD-U (7.4% of the VEO-IBD cohort). All 5 monogenic cases presented with an IBD-U phenotype. Monogenic IBD included A20 haploinsufficiency, interleukin-10 receptor subunit alpha deficiency, chronic granulomatous disease, Wiskott-Aldrich syndrome, and Hermansky-Pudlak syndrome. Monogenic IBD was significantly associated with IBD-U phenotype (P= 0.015) and severe infections before 1 year of age (P= 0.004).
CONCLUSIONS: Patients with VEO-IBD who present an IBD-U phenotype and have a history of severe infections during infancy should be prioritized for genetic analysis to investigate the possibility of monogenic IBD.
METHODS: We evaluated patients with VEO-IBD registered in the Japanese Pediatric Inflammatory Bowel Disease Registry, a multicenter prospective registry study conducted between 2012 and 2021. We categorized patients into monogenic and non-monogenic IBD groups and compared their clinical characteristics and outcomes.
RESULTS: Among 703 pediatric patients with IBD, 68 (9.7%) had VEO-IBD. Of these, 26 (38.2%) had ulcerative colitis, 16 (23.5%) had Crohn's disease, 23 (33.8%) had unclassified IBD (IBD-U), and 3 (4.4%) had Behçet's disease. Genetic testing was performed in 25 patients (36.8%), and monogenic IBD was identified in 5 of the 23 patients with IBD-U (7.4% of the VEO-IBD cohort). All 5 monogenic cases presented with an IBD-U phenotype. Monogenic IBD included A20 haploinsufficiency, interleukin-10 receptor subunit alpha deficiency, chronic granulomatous disease, Wiskott-Aldrich syndrome, and Hermansky-Pudlak syndrome. Monogenic IBD was significantly associated with IBD-U phenotype (P= 0.015) and severe infections before 1 year of age (P= 0.004).
CONCLUSIONS: Patients with VEO-IBD who present an IBD-U phenotype and have a history of severe infections during infancy should be prioritized for genetic analysis to investigate the possibility of monogenic IBD.