RESUMO
Alström syndrome is a genetic disease that impacts numerous systems in the human body. The symptoms can vary and appear gradually. Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children. Diabetes mellitus, hepatic issues, and renal dysfunction can all occur over time. Genetic alterations in the ALMS1 gene are the cause of Alström syndrome. It has an autosomal recessive inheritance pattern. We address the case of a Saudi woman in her 20s. She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome. DNA testing showed that she has a homozygous pathogenic variant in the ALMS gene. Autosomal recessive Alström syndrome has been confirmed as a genetic diagnosis. No other clinically significant variations were found that are associated with the mentioned phenotype. By reporting this mutation, we hope to learn more about the genotypic range of the disease, particularly in the Saudi population. As each member of the family underwent genetic testing, we established a stringent follow-up schedule for our patient and her family.
RESUMO
BACKGROUND: Continuous Subcutaneous Insulin Infusion (CSII) and Multiple Daily Injections (MDI) have been widely used as options in treating diabetes in childhood. Glycemic control is important to reduce diabetes complications; however, more focus needs to be on patients' Quality of Life (QoL). Diabetes and QoL have strong associations in terms of patients' overall health including their psychology, physical well-being, compliance with medication. A previous systematic review stressed that strong evidence to deny or prove the benefits of insulin pump therapy on health-related quality of life is deficient. The aim of this study is to assess the health-related quality of life and the psychological impacts of children with diabetes who use CSII and MDI treatment. METHODS: A cross-sectional study included 68 pediatric patients with type 1 Diabetes (T1DM) who were treated in a tertiary center in Jeddah, Saudi Arabia. We used the Pediatric Quality of Life Inventory 3.0 Diabetes Module and this module assesses the health-related quality of life of children with diabetes. RESULTS: Thirty-four (50%) participants found to be on MDI, of which 21 (61.8%) are males, compared to 34 (50%) patients using CSII, of which 12 (35.2%) are females. Participants using CSII had statistically significant better symptom control, less treatment difficulties but were more worrisome than MDI participants. CONCLUSION: CSII group had better quality of life in almost all aspects even though they were more worrisome. Further studies with a larger sample size are needed to give comprehensive generalizations.