ESPE2023 Poster Category 1 Fetal, Neonatal Endocrinology and Metabolism (34 abstracts)
Incidence and etiology of congenital hyperinsulinism in Slovakia
Denisa Lobotkova 1 , Martina Minova 2 , Juliana Ferenczova 2 , Adriana Dankovcikova 2 , Maria Sevecova 3 , Simona Tarnokova 4 , Miroslava Huckova 5 , Martina Skopkova 5 , Daniela Gasperikova 5 & Juraj Stanik 1,5
1Faculty of Medicine at Comenius University, Bratislava, Slovakia. 2Faculty of Medicine of the Pavol Jozef Šafárik University in Košice, Košice, Slovakia. 3Faculty hospital Prešov, Prešov, Slovakia. 4National Institute of Children´s Diseases, Bratislava, Slovakia. 5Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia
Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children and occurs in approximately 1 in 50,000 live births. Genetic testing provides information on the pancreatic histological subtype (i.e. focal vs diffuse) and determines further management and prognosis of the patients. At least 11 known monogenic forms and several syndromes have been associated with CHI. Mutations in ABCC8 and KCNJ11 genes coding potassium channel subunits in pancreatic beta cells are the most common cause of CHI and are responsible for the majority of diazoxide-resistant cases.
Aims and objectives: The aim of this study was to evaluate incidence and genetic causes of permanent forms of CHI in Slovakia.
Patients and Methods: Based on the data from the nationwide database of children with persistent hyperinsulinemic hypoglycemia, 28 children were diagnosed with CHI in the period of recent 18 years (2005-2022). In all of them was performed DNA analysis of the most common CHI genes. Incidence of CHI in was calculated using the Slovak demographic data.
Results: Incidence of CHI in Slovakia is 1 in 39 217 live births. Genetic cause of CHI was identified in 12 children (42%). The most common were mutations in ABCC8 (n=7) gene, followed by KCNJ11 (n=2) and HNF4A (n=2) mutations. Five of six patients with a diazoxide-resistant form of CHI had an ABCC8 or KCNJ11 mutation. Three of these patients had focal form of CHI based on the paternally inherited recessive mutation. One patient was identified with Beckwith-Wiedemann syndrome.
Conclusions: CHI is a rare disease with nation-wide incidence in Slovakia of 1:39 217 over the last 18 years. Genetic cause was identified in 42% of the patients; mutations in ABCC8 gene were the most prevalent. The type of mutation determinates the most appropriate management strategy of these patients including pancreatic surgery.
Grant support: VEGA 1/0659/22
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