The impact of inflammatory bowel diseases on the quality of life of Saudi pediatric patients: A cross-sectional study.

Background: Inflammatory bowel disease (IBD) is a chronic gastrointestinal tract disorder characterized by periods of exacerbations and remissions that affect multiple aspects of a pediatric patient's quality of life. The purpose of this study is to describe the health-related quality of life of Saudi pediatric IBD patients and to determine the influencing factors which can affect it. Methods: This is a single center cross-sectional descriptive study, conducted between December 2019 and December 2021. Patients aged between 9 and 16 years diagnosed with IBD were included; IMPACT III quality of life questionnaire was used. Results: Thirty-eight patients participated in the study, 57.9 % being male, with a mean age of 12.48 ± 2.72 years, and 55.3 % of patients were diagnosed with Crohn's disease (CD). The most frequent medications were aminosalicylic acids derivatives, followed by immune-modulators and biologics. The IMPACT III quality of life questionnaire has shown lower scores in IBD patients in comparison to healthy control groups. Patients with active disease have lower total and sub-domain scores than patients with inactive disease. We found no correlation between health-related quality of life (HrQOL) and the number of medications used, disease duration, or gender. Conclusions: Pediatric IBD patients have significantly lower HrQOL scores than healthy children. Disease activity was found to be a predictor for poor HrQOL outcome.

New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia.

BACKGROUND/AIM: Tufting enteropathy (TE) is a rare cause of congenital intractable diarrhea in children. It often results in an irreversible intestinal failure and total parenteral nutrition (TPN) dependency; eventually, intestinal transplantation may be necessary. Data on TE from the Middle East are scarce; therefore, our aim of conducting this study was to clarify the clinical, histopathologic, and molecular features of TE in Saudi children. PATIENTS AND METHODS: This was a retrospective chart review of four children with TE who presented between January 2011 and December 2013 to King Fahad Specialist Hospital-Dammam (KFSH-D). The diagnosis of TE was suspected based on characteristic histopathologic intestinal biopsy findings and confirmed by EpCAM gene testing. RESULTS: Molecular testing identified two novel mutations in the EpCAM gene in our patients. These mutations were associated with severe phenotype of the disease characterized by very early onset (median of 2 weeks of life), TPN dependency, and death during early childhood. Two patients died due to central line-related complications. Two patients were referred for intestinal transplantation due to loss of intravenous access in one and progressive liver disease in the other. CONCLUSION: Mutations in EpCAM gene in Saudi children are characterized by severe phenotype and poor outcome.