Long-Term outcomes of children diagnosed with indeterminate colitis

A third subtype of inflammatory bowel disease (IBD) is indeterminate colitis (IC). The clinical course of IC has not been well defined in children. The aim of this study was to evaluate the outcomes of children with IC during the follow-up period.

All data were retrospectively reviewed in children diagnosed with IC in our center between 2010 and 2022. Patients' demographics, family history, laboratory findings at diagnosis, serologic immune markers, and clinical findings were noted.

Among 185 children diagnosed with IBD between 2010 and 2022, 29 (15.7 %) were classified as having IC. Sixteen patients (55.1 %) were male. A concomitant autoimmune disease was present in seven patients (25 %). Five of the seven patients with additional autoimmune diseases were female. Among the patients with IC, 14 (48 %) had pancolonic involvement in colonoscopy at the time of diagnosis. During follow-up, extraintestinal features of IBD manifested in four (13.7 %) patients, three (10.3 %) patients with arthritis, and one patient (3.4 %) with arthritis and psoriasis. Six patients (20.6 %) harbored pathogenic variants in IBD-related genes, including NOD2 (n = 2), IL10RA (n = 1), and Mediterranean fever (MEFV) (n = 3). Two patients were reclassified as having ulcerative colitis (UC) and Crohn's disease (CD) during follow-up.

The detection of significant genetic mutations in one-fifth of the patients highlights the need for genetic evaluation, particularly in those with additional autoimmune conditions. Close monitoring of patients in this regard is crucial to ensure the success of treatment and to address any potential complications arising from immune-related issues. More comprehensive studies are essential in this context to understand the course of the disease and improve patient care.