Zusammenfassung
Der kongenitale Hyperinsulinismus (KHI) ist die häufigste Ursache persistierender Hypoglykämien im Säuglingsund Kindesalter. Über Jahrzehnte handelte es sich dabei um ein sehr schlecht verstandenes Krankheitsbild, das durch klinisch völlig unterschiedliche Verläufe gekennzeichnet ist. Das gemeinsame Merkmal sind rezidivierende Hypoglykämien, die ohne eine suffiziente Behandlung zu schwerer geistiger Behinderung führen können.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Literatur
Lonlay P de, Fournet JC, Rahier J et al. (1997) Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 100: 802–807
Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ (2004) Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev 84: 239–275
Glaser B, Thornton P, Otonkoski T, Junien C (2000) Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed 82: F79–F86
Kapoor RR, Locke J, Colclough K et al. (2008) Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 57: 1659–1663
Lindley KJ, Dunne MJ (2005) Contemporary strategies in the diagnosis and management of neonatal hyperinsulinaemic hypoglycaemia. Early Hum Dev 81: 61–72
Meissner T, Wendel U, Burgard P, Schaetzle S, Mayatepek E (2003) Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol 149: 43–51
Mohnike K, Blankenstein O, Christesen HT et al. (2006) Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism. Horm Res 66: 40–42
Palladino AA, Bennett MJ, Stanley CA (2008) Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. Clin Chem 54: 256–263
Otonkoski T, Jiao H, Kaminen-Ahola N et al. (2007) Physical exerciseinduced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet 81: 467–474
Thomas PM, Cote GJ, Wohllk N et al. (1995) Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268: 426–429
Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fekete C, Saudubray JM, Junien C (1998) Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 102: 1286–1291
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Meissner, T. (2010). Hyperinsulinismus. In: Pädiatrische Endokrinologie und Diabetologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-01912-8_9
Download citation
DOI: https://doi.org/10.1007/978-3-642-01912-8_9
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-01911-1
Online ISBN: 978-3-642-01912-8
eBook Packages: Medicine (German Language)