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Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic
1Department of Pediatrics, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai 200025, China.
Insights
New indicators can help identify infantile-onset inflammatory bowel disease (IO-IBD) in children. Serum ferritin and IL-10 levels are key for diagnosing monogenic IO-IBD, while TNF-α and albumin levels differentiate IO-IBD from allergic proctocolitis.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Genetics
Background:
- Infantile-onset inflammatory bowel disease (IO-IBD) presents severe symptoms in young children, often unresponsive to standard treatments.
- Current diagnostic methods lack reliable laboratory indicators for early IO-IBD screening, particularly for monogenic forms.
Purpose of the Study:
- To identify reliable laboratory indicators for the early detection of IO-IBD.
- To specifically find indicators for identifying monogenic IO-IBD in infants.
Main Methods:
- Retrospective analysis of 73 IO-IBD patients, categorized by next-generation sequencing into monogenic (M-IBD) and non-monogenic (NM-IBD) groups.
- Inclusion of 40 allergic proctocolitis (AP) patients as a control group.
- Evaluation of clinical data and peripheral blood inflammatory factors using logistic regression and ROC curve analysis.
Main Results:
- Serum tumor necrosis factor-alpha (TNF-α) and albumin levels differentiated IO-IBD from AP.
- Elevated serum ferritin levels indicated genetic mutations in IO-IBD patients (cut-off: 28.20 ng/mL, sensitivity: 0.93, specificity: 0.92).
- High interleukin-10 (IL-10) levels (cut-off: 33.05 pg/mL) or early onset (before 0.21 months) suggested IL-10RA mutations in IO-IBD.
Conclusions:
- Serum TNF-α and albumin levels can distinguish IO-IBD from allergic proctocolitis.
- Serum ferritin and IL-10 levels serve as valuable indicators for the early diagnosis of monogenic IO-IBD.
Background:
Infantile-onset inflammatory bowel disease (IO-IBD) occurs in very young children and causes severe clinical manifestations, which has poor responses to traditional inflammatory bowel disease (IBD) treatments. At present, there are no simple and reliable laboratory indicators for early screening IO-IBD patients, especially those in whom the disease is caused by monogenic diseases.
Aim:
To search for valuable indicators for early identifying IO-IBD patients, especially those in whom the disease is caused by monogenic diseases.
Methods:
A retrospective analysis was performed in 73 patients with IO-IBD admitted to our hospital in the past 5 years. Based on the next-generation sequencing results, they were divided into a monogenic IBD group (M-IBD) and a non-monogenic IBD group (NM-IBD). Forty age-matched patients with allergic proctocolitis (AP) were included in a control group. The clinical manifestations and the inflammatory factors in peripheral blood were evaluated. Logistic regression analysis and receiver operating characteristic (ROC) curve analysis were used to identify the screening factors and cut-off values of IO-IBD as well as monogenic IO-IBD, respectively.
Results:
Among the 44 M-IBD patients, 35 carried IL-10RA mutations, and the most common mutations were c.301C>T (p.R101W, 30/70) and the c.537G>A (p.T179T, 17/70). Patients with higher serum tumor necrosis factor (TNF)-α value were more likely to have IBD [odds ratio (OR) = 1.25, 95% confidence interval (CI): 1.05-1.50, P = 0.013], while higher serum albumin level was associated with lower risk of IBD (OR = 0.86, 95%CI: 0.74-1.00, P = 0.048). The cut-off values of TNF-α and albumin were 17.40 pg/mL (sensitivity: 0.78; specificity: 0.88) and 36.50 g/L (sensitivity: 0.80; specificity: 0.90), respectively. The increased ferritin level was indicative of a genetic mutation in IO-IBD patients. Its cut-off value was 28.20 ng/mL (sensitivity: 0.93; specificity: 0.92). When interleukin (IL)-10 level was higher than 33.05 pg/mL (sensitivity: 1.00; specificity: 0.84), or the onset age was earlier than 0.21 mo (sensitivity: 0.82; specificity: 0.94), the presence of disease-causing mutations in IL-10RA in IO-IBD patients was strongly suggested.
Conclusion:
Serum TNF-α and albumin level could differentiate IO-IBD patients from allergic proctocolitis patients, and serum ferritin and IL-10 levels are useful indicators for early diagnosing monogenic IO-IBD.
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