Glycemic control, complications, and associated autoimmune diseases in children and adolescents with type 1 diabetes in Jeddah, Saudi Arabia

To investigate the relationship between metabolic control, acute and long-term complications, the coexistence of autoimmune diseases, and to assess the different factors that can affect the glycemic control level among children with type 1 diabetes mellitus [T1DM]. This is a cross-sectional study that included 228 T1DM children and adolescents visiting the pediatric diabetes clinic at the King Abdulaziz University Hospital [KAUH], Jeddah, Saudi Arabia from January 2013 to January 2014. The clinical and laboratory characteristics of the patients were recorded. Metabolic control, complications, and associated autoimmune diseases were evaluated. The mean age of patients was 10.99 years, and the glycated hemoglobin [HbA1c] level was 8.8%. Acute complications included ketoacidosis in 65.4% of patients, and hypoglycemic attacks in 68.9%. Long-term complications were detected in patients including retinopathy [4.4%], microalbuminuria [16.2%], and dyslipidemia [8.3%]. Autoimmune thyroiditis was noted in 14%, and celiac disease was found in 19.7% of patients. A significant difference was found in pubertal and pre-pubertal age groups in terms of glycemic control [p=0.01]. The level of HbA1c was found to be higher among the pubertal age group. A relationship between autoimmune diseases and gender was determined

Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia

To understand the genetic etiologies of congenital hyperinsulinism [CHI] in a population of Saudi patients, and to explore genotype-phenotype characteristics. We retrospectively reviewed a cohort of 11 children with CHI presenting to King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia between March 2007 and February 2012. Mutational analysis [ABCC8 and KCNJ11] was performed retrospectively to identify phenotype and genotype characteristics. Analysis revealed ABCC8 mutations in 81.8% [9/11] of patients, with 2 patients not revealing any gene mutation. All positive patients showed a homozygous mutation in the ABCC8 gene, one in exon 29, 2 in exon 1-22, 2 in exon 28, and 4 in intron 36; one patient had a heterozygous mutation. Five patients [45.4%] responded well to treatment with diazoxide not requiring subtotal pancreatectomy, while 6 patients [54.6%] required subtotal pancreatectomy despite treatment with diazoxide and octreotide. Three patients [33.3%] died while waiting for surgery due to sepsis and thrombosis. Two patients [18.1%] showed remission, one of them after subtotal pancreatectomy. Homozygous mutations in ABCC8 are the most common causes of CHI in Saudi patients. Early diagnosis and therapy for persistent hyperinsulinemic hypoglycemia of infancy are essential to prevent neurodevelopmental delay