Acta Scientific Gastrointestinal Disorders (ISSN: 2582-1091)

Case Report Volume 3 Issue 6

Monogenic Very Early Onset Inflammatory Bowel Disease in Children. A Report of Two Cases and Literature Review

Shaden Al Mahamed* and Abdelhai Hammo

Department of Pediatric, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, King Fahad Specialist Hospital, Dammam, Saudi Arabia

*Corresponding Author: Shaden Al Mahamed, Pediatric Gastroenterologist and hepatologist. Department of pediatrics, section of pediatric gastroenterology, hepatology, and nutrition. King Fahad Specialist Hospital, Dammam, Saudi Arabia.

Received: May 11, 2020; Published: May 27, 2020

×

Abstract

Objective : Patients with a diverse spectrum of rare genetic disorders can present with very early onset inflammatory bowel disease (VEO-IBD), which known as monogenic IBD. We report two patients with very early presentation of Crohn’s disease and ulcerative colitis during early childhood and infancy. Rare genetic mutations in the GUCY2C AND AIRE gene respectively were detected in our patients. The early diagnosis of monogenic VEO-IBD allowed for appropriate management.

Method and Patients: Charts of two pediatric patients with confirmed monogenic disorders and VEO-IBD were reviewed retrospectively at King Fahad Specialist Hospital in Dammam, Saudi Arabia.

Result: First Patient was a female patient diagnosed with early onset Crohn's disease under the age of 6 years with underlying congenital familial diarrhea. GUCY2C gene mutation was detected based on whole exome sequencing (WES). Second patient was diagnosed at the age of 8 months with infantile ulcerative colitis associated with ankle joint arthritis and metaphyseal dysplasia. WES detected a mutation in AIRE gene and was consistent with the diagnosis of autoimmune polyendocrinopahty candidiasis ectodermal disorder syndrome type I (APECED).

Conclusion: Monogenic IBD in patients with VEO-IBD is a different disease entity from pediatric IBD. Whole exome sequencing (WES) and targeted genetic panel allow the prompt diagnosis and promote an early appropriate management. Our report of the two rare gene mutations associated with monogenic IBD should contribute to the literature data and increase awareness of monogenic immune defects as a cause of VEO-IBD in children.

Keywords: Very-Early Onset Inflammatory Bowel Disease; VEO-IBD; Crohn’s Disease; Ulcerative Colitis; Children; Familial Diarrhea; Diarrhea Type 6; APECED Type1; GUCY2C Gene; AIRE Gene

×

References

  1. Scott B Snapper. “Very-Early-Onset Inflammatory Bowel Disease”. Gastroenterology and Hepatology 8 (2015): 554-556.
  2. Holm H Uhlig. “The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease”. Gastroenterology5 (2014): 990-1007.
  3. Sullivan Kathleen., et al. “Very early-onset inflammatory bowel disease an integrated approach”. Current Opinion in Allergy and Clinical Immunology6 (2018): 459-469.
  4. Jung Ok Shim. “Recent Advance in Very Early Onset Inflammatory Bowel Disease”. Pediatric Gastroenterology Hepatology and Nutrition 1 (2019): 41-49.
  5. Mohammad I El Mouzan., et al. “Incidence of Pediatric Inflammatory Bowel Disease in Saudi Arabia: A Multicenter National Study”. Inflammatory Bowel Disease 20 (2014): 1085-1090.
  6. Abdulrahman Al-Hussaini., et al. “Clinical Pattern of Early-Onset Inflammatory Bowel Disease in Saudi Arabia: A Multicenter National Study”. Inflammatory Bowel Disease 22 (2016): 1961-1970.
  7. Thomas Müller., et al. “Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C”. Gut 65 (2016): 1306-1313.
  8. Rune R Tronstad., et al. “Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea”. Scandinavian Journal of Gastroenterology 53 (2018): 1264-1273.
  9. Fiskerstrand T., et al. “Familial diarrhea syndrome caused by an activating GUCY2C mutation”. The New England Journal of Medicine 17 (2012): 1586-1595.
  10. Johnson Nameirakpam., et al. “Genetics on early onset inflammatory bowel disease: An update”. Genes and Diseases 7 (2020): 93-106.
  11. Lucia De Martino., et al. “Novel Findings into AIRE Genetics and Functioning: Clinical Implications”. Frontiers in Pediatrics (2016).
  12. Iivo Hetema ¨ki., et al. “Anticommensal Responses Are Associated with Regulatory T Cell Defect in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients”. The Journal of Immunology (2016).
  13. Judith R Kelsen., et al. “North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients with Very Early-onset Inflammatory Bowel Disease”. Journal of Pediatric Gastroenterology and Nutrition 70 (2020): 389-403.
  14. Harris M., et al. “Reversible Metaphyseal Dysplasia, a Novel Bone Phenotype, in Two Unrelated Children with Autoimmune polyendocrinopathy-Candidiasis Ectodermal Dystrophy: Clinical and Molecular Studies”. The Journal of Clinical Endocrinology and Metabolism 10 (2003): 4576-4585.
  15. Maria J Gutierrez., et al. “Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome”. Frontiers in Immunology 8 (2017): 377.
×

Citation

Citation: Shaden Al Mahamed and Abdelhai Hammo. “Monogenic Very Early Onset Inflammatory Bowel Disease in Children. A Report of Two Cases and Literature Review”. Acta Scientific Gastrointestinal Disorders 3.6 (2020): 12-16.



Member In





News and Events


  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is July 15, 2020.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of “Best Article of the Issue”.
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.
  • Contact US