Nationwide Epidemiology and Genetic Background of Persistent Nonsyndromic Congenital Hyperinsulinism in Slovakia
Nonsyndromic CHI is a rare disease with nationwide incidence in Slovakia of 1:39,804. Diazoxide-unresponsive CHI accounts for 21% of all the cases. A genetic cause was identified in 32% (100% in diazoxide-unresponsive) of children; mutations in the ABCC8 gene were the most prevalent. The type of mutation determines the most appropriate management strategy, including pancreatic surgery.
Authors
- Daniela Gašperíková (ORCID: https://orcid.org/0000-0002-5725-6424)
- Miroslava Hučková
- Denisa Lobotková
- Zuzana Dobiašová (ORCID: https://orcid.org/0000-0001-5304-5913)
- Peter Kühnen (ORCID: https://orcid.org/0000-0003-0211-176X)
- Martina Škopková (ORCID: https://orcid.org/0000-0001-7927-9777)
- Adriana Dankovčíková
- Daniel Daniš (ORCID: https://orcid.org/0000-0003-0900-3411)
- Juliana Ferenczová
- Oliver Blankenstein (ORCID: https://orcid.org/0000-0003-1803-5589)
- Monika Rosoľanková
- Simona Tárnoková
- Juraj Staník (ORCID: https://orcid.org/0000-0002-0538-1274)
- Silvia Mikulajová
- Martina Miňová
- Mária Ševecová
Institutions
- National Institute of Cardiovascular Diseases (SK)
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1159/000549591
- Primary Topic
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Type
- article
- Field-Weighted Citation Impact
- 0.00