Current Status of Childhood Hyperinsulinaemic Hypoglycaemia in Turkey.

Current Status of Childhood Hyperinsulinaemic Hypoglycaemia in Turkey. J Clin Res Pediatr Endocrinol. 2016 May 16; Authors: Şıklar Z, Berberoğlu M Abstract Congenital Hyperinsulinism (CHI) is a rare disease and characterized by dysregulated insulin secretion from pancreatic β-cells. Recurrent hypoglycemia can lead to neurological insult and permenant brain injury. Recently, there are important advances in understanding the genetic mechanisms, histological characteristics, imaging and surgical techniques of Congenital Hyperinsulinaemic Hypoglycemia that could reflect to improvement of the clinical care of infants with this disorder. In Turkey, there is high rate of consanguinity, and the incidence of CHI expected to be high. Until now there is no nationwide data, but some individual case reports or case series had been published. To exhibit the characteristisc of Turkish patients could bring a different point of view to CHI. In this review, we evaluated the clinical and molecular characteristics of Turkish patients with CHI based on published papers which were reported. 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 analysed, and 56 of them had one of the mutation leading hyperinsulinism. PMID: 27181376 [PubMed - as supplied by publi...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research