:: Volume 7, Issue 4 (Int J Mol Cell Med 2018) ::
Int J Mol Cell Med 2018, 7(4): 251-257 Back to browse issues page
Diagnostic Challenges in the Early Onset of Inflammatory Bowel Disease: A Case Report
Naghi Dara1 , Shahram Nemati2 , Shahram Teimourian 3, Farid Imanzadeh1 , Amirhossein Hosseini1 , Saleheh Tajalli4 , Ali Akbar Sayyari1 , Ali Najafi5 , Pejman Rohani1 , Katayoun Khatami1 , Elahe Motevaseli6 , Martin De Boer7, Taco W. Kuijpers7
1- Pediatric Gastroenterology, Hepatology and Nutrition Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
2- Department of Medical Genetics, Tehran University of MediĀ¬cal Sciences, Tehran, Iran.
3- Department of Medical Genetics, Iran University of Medical Sciences, Tehran, Iran. , teimourian.sh@iums.ac.ir
4- Student Research Committee, Iran University of Medical Sciences, Tehran, Iran.
5- Molecular Biology Center, Baqiatallah University Of Medical Sciences, Tehran, Iran.
6- Department of Molecular Medicine, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran.
7- Sanquin Blood Supply Organization, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Abstract:   (689 Views)
Inflammatory bowel disease (IBD) with very early onset manifestations (younger than six years of age) is an essential pediatric gastrointestinal disease that encompasses a group of diverse and rare genetic defects. It may be associated with chronicity, premalignant nature, and high morbidity and mortality during childhood. Because of overlapping phenotypes, the definitive diagnosis based on conventional strategies is frequently a challenge. However, many patients with different molecular pathologies are treated with the same therapeutic strategy. In this context, it is essential to define a more reliable method to provide an opportunity for a rapid and accurate diagnosis. Here we report a novel homozygous exonic variant in a patient with an IBD-like lesion in the colon during the infancy period. A 7 months old boy who was born of a consanguineous marriage developed gastrointestinal disorders early in life. After complete diagnostic workups, this case underwent conventional therapy of IBD for five months; but clinical remission was not achieved. We identified a novel homozygous mutation (c.684C>T p. (=)) in exon 7 of IL-12RB1 gene that in silico studies indicated its significance in the splicing process. At the 14th month of age, this case died. Our finding reveals the importance of genetic screening as an early diagnostic tool in the identification of the underlying causes of IBD with very early onset manifestations, particularly infantile (< 2 years of age) IBD. This strategy makes an opportunity in prompt diagnosis and targeted therapy.
Keywords: Early onset inflammatory bowel disease, genetic, IL-12RB1 deficiency, pediatric
Full-Text [PDF 583 kb]   (90 Downloads)    
Type of Study: Case Report | Subject: Genetics & Disease
Received: 2018/09/23 | Accepted: 2019/02/22 | Published: 2019/07/5

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Volume 7, Issue 4 (Int J Mol Cell Med 2018) Back to browse issues page