Genetic profile of patients with early onset inflammatory bowel disease

Girardelli, Martina; Basaldella, Federica; Paolera, Sara Della; Vuch, Josef; Tommasini, Alberto; Martelossi, Stefano; Crovella, Sérgio; Bianco, Anna Monica

doi:10.1016/j.gene.2017.12.029

Cited by 25 publications

(13 citation statements)

References 58 publications

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“…While previous studies have shown that 11% to 30% of patients with IBD have a positive family history of IBD, most of these studies were from western European populations. In our study, both groups had low rates of a positive family history and there was no difference between the two groups regarding this respect.…”

Section: Discussionmentioning

confidence: 99%

Special clinical characteristics and outcomes in Chinese pediatric patients with early‐onset Crohn's disease

Tang

Shi

Cui

et al. 2019

J of Digest Diseases

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Objective To study the clinical and nutritional characteristics of early‐onset Crohn's disease (EO‐CD) in China. Methods Patients were defined as having EO‐CD (age at diagnosis <10 y) or late‐onset Crohn's disease (LO‐CD; age at diagnosis of 10‐17 y). Their characteristics, clinical, and nutritional data were collected at baseline and at each follow‐up visit. Statistical analyses were used to compare differences in both groups. Results From July 1993 to February 2017, of the 137 children enrolled, 68 (49.6%) had EO‐CD and 69 (50.4%) had LO‐CD. More patients with EO‐CD than those with LO‐CD presented with diarrhea, hematochezia, growth delay, anemia and skin disease, and had higher pediatric Crohn's disease activity index scores at diagnosis (all P < 0.05). Fewer patients with EO‐CD achieved their first remission (42.6% vs 76.8%, P < 0.0001) during follow‐up. Patients with EO‐CD required a longer treatment time to reach remission (P = 0.0049) and had a higher mortality rate (P = 0.0133), as well as lower height and weight percentiles (P = 0.0200 and 0.0288, respectively), hemoglobin (P = 0.0185) and albumin levels (P = 0.0002), zinc (P = 0.0024) and iron (P = 0.0110) concentrations in blood at diagnosis. Conclusion The EO‐CD group had worse clinical outcomes and nutritional status than the LO‐CD group.

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Section: Discussionmentioning

confidence: 99%

Special clinical characteristics and outcomes in Chinese pediatric patients with early‐onset Crohn's disease

Tang

Shi

Cui

et al. 2019

J of Digest Diseases

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“…[3,27] Additionally, the polymorphisms of IL-10 gene can exert a protective effect on patients with IBD, ulcerative colitis or Crohn disease. [28,29]…”

Section: Discussionmentioning

confidence: 99%

Effect of the interleukin 10 polymorphisms on interleukin 10 production and visceral hypersensitivity in Chinese patients with diarrhea-predominant irritable bowel syndrome

Zhu

Liu

Sun

et al. 2019

Chinese Medical Journal

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Background: Irritable bowel syndrome (IBS), a functional gastrointestinal disorder, is characterized by cytokine imbalance. Previously, decreased plasma interleukin 10 (IL-10) level was reported in patients with IBS, which may be due to genetic polymorphisms. However, there are no reports correlating the IL-10 polymorphisms with IL-10 production in patients with IBS. This study aimed to analyze the effect of IL-10 polymorphisms on IL-10 production and its correlation with the clinical symptoms in Chinese patients with diarrhea-predominant IBS (IBS-D). Methods: Two IL-10 single nucleotide polymorphisms ( rs1800871 and rs1800896 ) were detected in 120 patients with IBS-D and 144 healthy controls (HC) using SNaPshot. IBS symptom severity score, Bristol scale, hospital anxiety, and depressive scale (HADS) were used to evaluate the clinical symptoms, as well as the psychological status and visceral sensitivity of the subjects. IL-10 levels in the plasma and peripheral blood mononuclear cell (PBMC) culture supernatant were measured using enzyme-linked immunosorbent assay, while those in ileal and colonic mucosal biopsies were measured using immunohistochemistry. Results: The frequency of rs1800896 C allele was significantly lower in the patients with IBS-D than that in the HC (odds ratio: 0.49, 95% confidence interval: 0.27–0.92, P = 0.0240). The IL-10 levels in the plasma ( P = 0.0030) and PBMC culture supernatant ( P = 0.0500) of the CT genotype subjects were significantly higher than those in the TT genotype subjects. The CT genotype subjects exhibited a higher pain threshold in the rectal distention test than the TT genotype subjects. Moreover, IL-10 rs1800871 GG genotype subjects showed an increase in the HADS score compared to other genotype subjects. Conclusions: IL-10 rs1800896 C allele is correlated with higher IL-10 levels in the plasma and the PBMC culture supernatant, which is associated with a higher pain threshold in the Chinese patients with IBS-D. This study provides an explicit relationship of IL-10 polymorphisms with IL-10 production, which might help in understanding the pathogenesis of IBS-D.

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“…Mucosal ulceration, abscess, stricture and perianal lesions in the gut are the major endoscopic findings. [11][12][13][14] Previous reports showed that HIDS may resemble IBD with perianal abscess in the presence of chronic colitis. 5,6 Although the colonoscopy in our patient failed to reveal typical signs of colitis, mucosal ulcers and abscess, we still think that the recurrent perianal fistulas and abscess were associated with HIDS.…”

Section: Discussionmentioning

confidence: 99%

Hyperimmunoglobulinemia D syndrome with recurrent perianal abscess successfully treated with canakinumab

et al. 2019

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Hyperimmunoglobulinaemia D syndrome is an autoinflammatory disease usually representing recurrent episodes of fever, arthralgia/arthritis, cervical lymphadenopathy, vomiting, diarrhoea, abdominal pain and skin rashes lasting 3–7 days every 4–8 weeks since their infancy. Recent reports suggested a link between perianal fistulae/abscess and severe colitis with hyperimmunoglobulinaemia D syndrome resembling an inflammatory bowel disease phenotype. Herein, we report an 18-month-old patient with recurrent attacks of fever and pharyngitis lasting 2–3 days every 10–15 days since the first two weeks of life. Inflammatory attacks were accompanied by diarrhoea, oral aphthous ulcers, cervical lymphadenopathy, maculopapular rash, severe leukocytosis and perianal fistulae/abscess. After the initiation of canakinumab, the patient was clinically improved with complete healing of perianal fistulas/abscesses. In conclusion, hyperimmunoglobulinaemia D syndrome should be considered in differential diagnosis of inflammatory bowel disease and recurrent perianal abscess/fistula in a patient with inflammatory attacks.

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Genetic profile of patients with early onset inflammatory bowel disease

Cited by 25 publications

References 58 publications

Special clinical characteristics and outcomes in Chinese pediatric patients with early‐onset Crohn's disease

Special clinical characteristics and outcomes in Chinese pediatric patients with early‐onset Crohn's disease

Effect of the interleukin 10 polymorphisms on interleukin 10 production and visceral hypersensitivity in Chinese patients with diarrhea-predominant irritable bowel syndrome

Hyperimmunoglobulinemia D syndrome with recurrent perianal abscess successfully treated with canakinumab

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