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
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
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.
Copyright: © 2020 Shaden Al Mahamed and Abdelhai Hammo. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.