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- W1969135978 abstract "Congenital hyperinsulinism (CHI) is a common cause of persistent hypoglycaemia in neonates, with an estimated incidence of one in 50 000 live births (1). The molecular basis for CHI can be established in approximately 50% of the cases and is categorised as channelopathies – defects in the ATP-sensitive potassium (KATP) channels that regulate insulin secretion, and metabolopathies – defects in metabolic pathways altering b-cell function (2). Channelopathies form the largest group and can be further sub-divided into focal and diffuse forms. In contrast to metabolopathies, most channelopathies do not respond to pharmacological treatment and require surgical removal of either focal lesions or, in diffuse forms, near total (O97%) pancreatectomy. This case report describes the diagnostic and therapeutic challenges in a patient with CHI. More extensive background information on CHI can be found elsewhere (2)." @default.
- W1969135978 created "2016-06-24" @default.
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- W1969135978 date "2006-11-01" @default.
- W1969135978 modified "2023-09-27" @default.
- W1969135978 title "Diagnosis and management of congenital hyperinsulinism: a case report" @default.
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- W1969135978 doi "https://doi.org/10.1530/eje.1.02266" @default.
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