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Congenital HyperinsulinismDiazoxideHyperinsulinismSulfonylurea ReceptorsReceptors, DrugPotassium Channels, Inwardly RectifyingHypoglycemiaKATP ChannelsDiagnostic Techniques, EndocrinePotassium ChannelsATP-Binding Cassette TransportersHyperammonemiaDecanoic AcidsHydroxy AcidsInsulinPancreatectomyGlutamate DehydrogenaseTolbutamideInsulinomaSulfonylurea CompoundsIslets of LangerhansInsulin AntibodiesBeckwith-Wiedemann SyndromeInfant, Newborn3-Hydroxyacyl CoA DehydrogenasesAdenosine TriphosphateCongenital Disorders of GlycosylationMutationCyclin-Dependent Kinase Inhibitor p57Insulin-Secreting CellsBlood GlucoseChromosomes, Human, Pair 11PinacidilGlyburideGlucoseHyperandrogenismMutation, MissenseProinsulinOctreotideChlorthalidonePancreasMitochondria, HeartIschemic Preconditioning, MyocardialCromakalimHamartomaHypoglycemic AgentsC-PeptidePotassium RadioisotopesHeterozygoteMaxillary ArteryPancreatic NeoplasmsMosaicismHypopituitarismPicolinesPedigreeSyndromePotassium Channel BlockersAmmoniaSodium Chloride Symporter InhibitorsSeizuresGenes, DominantMinoxidilVasodilator AgentsInjections, IntravenousPoint MutationHomozygoteRubidium RadioisotopesGlucose Tolerance TestAmino Acid SubstitutionPhenotype

CongenitalDiffuseKATP HIHypoglycemiaMutationsPersistentGeneticPatientsCasesLine

Congenital16

• Congenital hyperinsulinism (HI or CHI) is a rare condition causing severe hypoglycemia (low blood sugar) in newborns due to the overproduction of insulin. (wikipedia.org)
• Congenital forms of hyperinsulinism can be transient (short-term) or persistent (long-term) and mild or severe. (wikipedia.org)
• Hyperinsulinism or congenital hyperinsulinism can be a genetic or acquired condition. (wikipedia.org)
• What is congenital hyperinsulinism (HI)? (chop.edu)
• Congenital hyperinsulinism (HI) is a genetic disorder in which the insulin cells of the pancreas, called beta cells, secrete too much insulin. (chop.edu)
• Since most children's hospitals encounter only one or two cases a year, it is important to receive medical care from an experienced treatment center, such as the Congenital Hyperinsulinism Center at CHOP. (chop.edu)
• Congenital hyperinsulinism is caused by genetic mutations that result in inappropriate and excess insulin secretion from the beta cells of the pancreas. (chop.edu)
• Congenital hyperinsulinism causes low plasma sugar (hypoglycemia).The symptoms of hypoglycemia in infants are often difficult to identify, as they can be similar to normal infant activities. (chop.edu)
• The diagnosis of congenital hyperinsulinism is based on history, laboratory findings, and genetic testing. (chop.edu)
• Congenital hyperinsulinism (CHI) is the most frequent cause of persistent hypoglycemia in newborn babies, infants, and children. (medscape.com)
• 5] Severe cases of congenital HI may be unresponsive to either diazoxide or octreotide and require intensive management with tube feedings, near-total pancreatectomy, or partial pancreatectomy. (medscape.com)
• Background: Congenital hyperinsulinism in infancy (CHI) is a neonatal disorder of uncontrolled insulin release leading to profound hypoglycaemia. (eurospe.org)
• Background: Diffuse congenital hyperinsulinism in infancy (CHI-D) mainly arises from mutations in KATP channel genes. (eurospe.org)
• Background: Dominant mutations in ABCC8 can cause congenital hyperinsulinism (CHI), which is characterised by unregulated insulin secretion.Objective and hypotheses: To understand the molecular basis of medically unresponsive CHI due to dominant ABCC8 mutations.Method: We investigated ten patients with diazoxide unresponsive CHI who required a near total pancreatectomy. (eurospe.org)
• Background: Severe-persistent hypoglycaemia (SPH) in congenital hyperinsulinism (HI) can cause blindness and brain damage. (eurospe.org)
• Background: Congenital hyperinsulinism is a frequent cause of persistent hypoglycaemia in neonates. (eurospe.org)

Diffuse1

• For those with diffuse HI, diazoxide is the only approved medication to treat hypoglycemia. (wikipedia.org)

KATP HI1

• Diazoxide is the first-line drug for controlling hypoglycemia in HI, but it is ineffective in some genetic forms (KATP-HI, GK-HI). (medscape.com)

Hypoglycemia2

• Hyperinsulinism (HI) is the most common cause of severe, persistent hypoglycemia in infants and children. (medscape.com)
• Conversely, hypoglycemia associated with ketonuria makes hyperinsulinism less likely. (medscape.com)

Mutations1

• Mutations of GDH result in hyperinsulinism/hyperammonemia syndrome. (diabetesjournals.org)

Persistent1

• There remain approximately 50% of diazoxide-responsive cases and 10% of diazoxide-unresponsive cases of persistent HI with unknown etiology, suggesting that additional genes may be identified in the pathogenesis of HI. (medscape.com)

Genetic1

• A genetic cause is also possible in children responding to diazoxide but where low sugars persist beyond the first 4 months of life. (wikipedia.org)

Patients1

• Octreotide may be used in diazoxide-unresponsive patients but is often ineffective because of down-regulation of the somatostatin receptor, and it carries a risk of causing necrotizing enterocolitis and death. (medscape.com)

Cases1

• Approximately 50% of diazoxide-responsive cases and 10% of diazoxide-unresponsive cases of CHI have unknown etiology, suggesting that additional genes may be identified. (medscape.com)

Line1

• This typically includes those not responding to first line medication diazoxide. (wikipedia.org)