{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T16:58:00Z","timestamp":1784653080477,"version":"3.55.0"},"reference-count":72,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Inflammatory bowel diseases (IBDs) comprise a group of chronic idiopathic disorders, including ulcerative colitis (UC), Crohn\u2019s disease (CD), and indeterminate colitis (IC). Complex genetic factors, in addition to environmental triggers, have been shown to play a fundamental role in the pathogenesis of IBD, contributing to disease susceptibility. The transition of adolescents with inflammatory bowel disease (IBD) to adult care represents a significant challenge for patients, their families, and healthcare providers. Approximately 25% of individuals with IBD receive a diagnosis before the age of 16, and this population is at increased risk for adverse clinical outcomes. As a result, the transition of care has garnered substantial attention in the scientific and clinical communities over the past decade. This study aims to analyze a cohort of pediatric Sardinian patients with IBD to assess clinical characteristics at diagnosis and at the time of transition and determine potential correlations between NOD2\/CARD15 gene variants and HLA class II with the disease phenotype. Methods: From January 2014 to August 2024, we performed an observational, cross-sectional study that included pediatric patients with IBD enrolled in the only pediatric IBD reference center in Sardinia. Data were obtained from the patients\u2019 medical records and from a questionnaire administered at the inclusion visit. In addition, we genotyped a portion of our cohort for the Leu1007fsinsC (SNP13), Gly908Arg (SNP12), and Arg702Trp (SNP8) variants of the NOD2\/CARD15 gene, as well as for HLA-DRB1, -DQA1, and -DQB1 class II genes. The obtained results were compared with pediatric data from the national epidemiological IBD registry and existing literature. Results: Seventy-one IBD patients were enrolled (UC 43, CD 28, M 34, F 37). Median age at diagnosis was 12.2 years (IQR 2\u201317). After a median disease duration of 5 years (IQR: 1\u201316), only three UC patients experienced proximal extension of proctitis or left-sided colitis, and no CD patients experienced new localizations of disease. Fifteen patients developed extraintestinal manifestations. No significant difference was found in median diagnostic delay (DD) between UC [4 months (IQR: 1\u201384)] and CD patients [4.5 months (IQR: 1\u201348)]. At the transition visit, overall, twenty-nine patients (42%) were exposed to one biologic agent (vs. 3% at baseline; p &lt; 0.02); 3 patients (4%) were exposed to two or more biologic agents. 7% of patients (5\/71) underwent surgery. By comparing the distribution of NOD2\/CARD15 SNPs between pediatric patients and an adult CD population, we found a significant association between gene allelic variants and pediatric onset (p = 0.00048). Our study also revealed a statistically significant association between Sardinian pediatric patients carrying NOD2\/CARD15 mutations and early-onset CD (p &lt; 0.009492), along with a stenosing phenotype (p &lt; 0.024) and increased surgical risk (p &lt; 0.026). No significant associations were observed between HLA class II alleles and IBD in our population. Conclusions: Our results provide important insights into the clinical and epidemiological features of the pediatric IBD population. In addition, our study highlights the significant role of NOD2\/CARD15 gene polymorphisms in pediatric onset CD. These variants influence the age of onset and disease phenotype, characterized by greater severity and a higher risk of surgical intervention in pediatric patients.<\/jats:p>","DOI":"10.3390\/jcm14113741","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T09:29:36Z","timestamp":1748338176000},"page":"3741","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and Genetic Characteristics of Pediatric Patients with Inflammatory Bowel Disease Transitioning to Adult Medicine: A Single-Center Ten-Year Experience"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9263-7409","authenticated-orcid":false,"given":"Giammarco","family":"Mocci","sequence":"first","affiliation":[{"name":"Division of Gastroenterology, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Orr\u00f9","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences and Public Health, University of Cagliari, 09042 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Maria","family":"Onidi","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Corpino","sequence":"additional","affiliation":[{"name":"Pediatric Clinic and Rare Disease, Microcitemic Asl8, 09121 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Marongiu","sequence":"additional","affiliation":[{"name":"Neonatology SS Trinit\u00e0 Hospital, 09121 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2883-3242","authenticated-orcid":false,"given":"Giovanni Maria","family":"Argiolas","sequence":"additional","affiliation":[{"name":"Division of Radiology, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8087-0692","authenticated-orcid":false,"given":"Matteo","family":"Runfola","sequence":"additional","affiliation":[{"name":"Division of Surgery, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Manunza","sequence":"additional","affiliation":[{"name":"Division of Surgery, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Locci","sequence":"additional","affiliation":[{"name":"Unit Pathologic Anatomy, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Tamponi","sequence":"additional","affiliation":[{"name":"Unit Pathologic Anatomy, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Zolfino","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3344-927X","authenticated-orcid":false,"given":"Paolo","family":"Usai Satta","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Muscas","sequence":"additional","affiliation":[{"name":"Division of Pediatric, \u201cBrotzu\u201d Hospital, 09047 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossano","family":"Rossino","sequence":"additional","affiliation":[{"name":"Department of Medical Science and Public Health, Cagliari University, Monserrato, 09042 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Savasta","sequence":"additional","affiliation":[{"name":"Pediatric Clinic and Rare Disease, Microcitemic Asl8, 09121 Cagliari, Italy"},{"name":"Department of Medical Science and Public Health, Cagliari University, Monserrato, 09042 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1688-304X","authenticated-orcid":false,"given":"Mauro","family":"Congia","sequence":"additional","affiliation":[{"name":"Pediatric Clinic and Rare Disease, Microcitemic Asl8, 09121 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"s1","DOI":"10.1136\/gutjnl-2019-318484","article-title":"British Society of Gastroenterology consensus guidelines on the management of inflammatory bowel disease in adults","volume":"68","author":"Lamb","year":"2019","journal-title":"Gut"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1046\/j.1365-2036.2002.01140.x","article-title":"The epidemiology and natural history of Crohn\u2019s disease in population-based patient cohorts from North America: A systematic review","volume":"16","author":"Loftus","year":"2002","journal-title":"Aliment. 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