title: Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.
abstract: Congenital hyperinsulinism (CHI) is a rare disease characterized by dysregulated insulin secretion from pancreatic β-cells. Recurrent hypoglycemia can lead to neurological insult and permanent brain injury. Recently, there are important advances in understanding the genetic mechanisms, histological characteristics, imaging, and surgical techniques of congenital hyperinsulinemic hypoglycemia that could reflect to improvement in the clinical care of infants with this disorder. In Turkey, there is a high rate of consanguinity, thus, the incidence of CHI is expected to be high. Until now, there are no nationwide data regarding the disorder, and some individual case reports or case series had been published. Determining the characteristics of Turkish patients with CHI can help develop a different perspective on this rare disease. In this review, we evaluated the clinical and molecular characteristics of Turkish patients with CHI based on reports published in the literature. The most frequently seen mutations were ABCC8 gene mutations (n=37), followed by HADH (n=11) and KCNJ11 gene (n=7) mutations. A total of 141 Turkish patients with CHI were reported until now. Among them, 115 patients had been genetically analyzed, and 56 of them had one of the mutation leading to hyperinsulinism.
authors.affiliation: Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey, Phone: +90 312 595 66 35 E-mail: zeynepsklr@gmail.com.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Şıklar
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics; D002648:Child; D044903:Congenital Hyperinsulinism / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007003:Hypoglycemia / Q000150:complications / Q000235:genetics*; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D064233:Sulfonylurea Receptors / Q000235:genetics; D014421:Turkey; D000099161:Kcnj11 Channel
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases; D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human