RESUMEN
Crigler-Najjar syndrome (CNS) type I is a rare genetic disease caused by mutations in the UGT1A1 gene, resulting in a lack of Uridine 5'-diphospho-glucuronosyltransferase (UDPGT) enzyme. This enzyme is responsible for the glucuronidation and elimination of unconjugated bilirubin from the body. Here we report a two-month-old Saudi girl who presented with persistent unconjugated hyperbilirubinemia, reaching levels as high as 30 mg/dL despite ineffective phototherapy. The diagnosis was confirmed through sequencing, and the patient underwent a successful liver transplant at the age of two months. At the one-year follow-up, the patient is doing well. This case highlights the significance of early detection and appropriate management of CNS, emphasizing the need for prompt intervention to improve patient outcomes and prevent complications. While phototherapy offers some benefits, liver transplantation remains the only definitive treatment for this condition.
RESUMEN
Background Gastroesophageal reflux disease (GERD) is a common gastrointestinal (GI) tract disease and has an adverse effect on the quality of life (QoL) of patients. Studies on the QoL of GERD patients would increase awareness among healthcare providers about the magnitude of the problem and how to manage it. Objectives This study aimed to determine the essential variables that affected the QoL of GERD patients at King Saud University Medical City (KSUMC), Riyadh, Saudi Arabia. Method This was a cross-sectional study performed using quantitative questionnaires, which was conducted at KSUMC during the period from September 1, 2019, to April 1, 2020. We used the gastroesophageal reflux disease health-related quality of life (GERD-HRQL) questionnaire. Additionally, the authors collected information about sociodemographic variables and concomitant diseases from each participant. Results The study included 200 participants; 58.5% of them were males. Around 34.9% of participants in the age group A (18-34 years) had poor QoL compared to 57.5% and 50% of participants from the counterpart groups, respectively. There was a statistically significant difference in the QoL among various age groups (p: 0.006). Furthermore, 58.9% of obese participants had poor QoL; there was a statistically significant difference in the QoL between normal-weight and obese groups (p: 0.013). Conclusion The QoL of GERD patients was found to be affected negatively by increasing age and high body mass index (BMI). None of the other demographic variables and concomitant diseases had any significant effect on the QoL of the participants.