Is necrotizing enterocolitis in newborn infants an indicator of autoinflammatory disease?

Project no. 22329 · Status: Kapanmış (Yayın bekleniyor) · 2021

Summary

Introduction: Necrotizing enterocolitis (NEC); Its etiology is multifactorial. Free oxygen radicals that trigger inflammation and an increase in proinflammatory cytokines constitute the pathogenesis. Imbalance of pro-inflammatory and anti-inflammatory response when the inflammatory cascade suppressive responses in the gut are insufficient; increased mucosal permeability results in neutrophil infiltration leading to necrosis in epithelial cells, apoptosis and intestinal damage. There is no study in the literature on whether infants presenting with NEC findings are an indicator of an autoinflammatory disease. This study was planned to seek an answer to the question "Can NEC be a sign of autoinflammatory disease?" Materials and Methods: Between 2012 and 2013, gene mutations in terms of autoinflammatory diseases were examined in 29 infants with a gestational age below 32 weeks and developing NEC in the follow-up. Stage 2 and 3 NEC patients were included in the study. Mutation screening was performed with a panel including CARD14, LPIN2, NLRP3, NLRP7, NOD2, NLRP12, TNFRSF1A, PSTPIP1, MEFV, TNFRSF11A, MVK, IL10RA, CECR1, IL10RB, IL1RN, PSMB8, ELANE from the DNA sample obtained from the patients. Results: The mean gestational week of the patients was 27.9 ± 2.8, and the mean birth weight was 1034.7±375 grams. In the results of our patients, a disease-associated variant mutation (VUS) of unknown clinical significance was detected in a total of 19 (65%). Among the detected VUS mutations, ADA2 mutation was detected in 14 patients, MEFV mutation in 2 patients, TNFRSF11A in 2 patients, and TNFRSV1A, CARD14, NLRP 7, MVK, NRP12 in one patient each. While ADA2 in 3, TNFRSF11A in 2, NLRP12 in one person, NLRP3 in one patient, and NLRP3 in one of our 7 deceased patients, there was no mutation. At the same time, a single nucleotide polymorphism was observed in the MEFV, MVK, NOD2, NLPP3, NLRP7, CARD14, IL10RA-B, TNFRS11A, LIPN genes, which was evaluated as a genetic polymorphism in autoinflammatory disease, inflammatory bowel disease and periodic fever syndromes. Conclusion: When the results of our study were evaluated, it was predicted that there may be a relationship with genetic mutations related to autoinflammation in the etiology of NEC.

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