Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

• Главные авторы: Emregül Işık (Автор), Hüseyin Demirbilek (Автор), Jayne A. Houghton (Автор), Sian Ellard (Автор), Sarah E. Flanagan (Автор), Khalid Hussain (Автор)
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• Опубликовано: Galenos Yayincilik, 2019-03-01T00:00:00Z.
• Предметы: article
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Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases. Hyperinsulinaemic hypoglycaemia in infancy and diabetes in later life have been...