Abstract
Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation
Highlights
Adenosine triphosphate (ATP)-sensitive potassium (KATP) channels play an essential role in the regulation of insulin secretion from the pancreatic beta-cell; the key mechanism maintaining the blood glucose level in a narrow range of 3.5-5.5 mmol/L [1,2,3]
Patients with dominant mutations of KATP channel genes, ABCC8 and KCNJ11, may cause variable phenotype ranging from asymptomatic macrosomia, mild diazoxide responsive congenital hyperinsulinism (CHI) to severe persistent hyperinsulinaemic hypoglycaemia (HH) as well as diabetes mellitus in later life [7,8,9,11]
Following detection of the ABCC8 mutation, a trial of sulphonylurea (SU) treatment was commenced in the index case and his mother, who had been on insulin therapy for 13 years in an outpatient setting (Table 2)
Summary
Adenosine triphosphate (ATP)-sensitive potassium (KATP) channels play an essential role in the regulation of insulin secretion from the pancreatic beta-cell; the key mechanism maintaining the blood glucose level in a narrow range of 3.5-5.5 mmol/L [1,2,3]. Recessive inactivating mutations of the KATP channel genes (ABCC8 and KCNJ11) are the most common cause of severe, diazoxide unresponsive, diffuse CHI which usually requires pancreatectomy [1,10]. Patients with dominant mutations of KATP channel genes, ABCC8 and KCNJ11, may cause variable phenotype ranging from asymptomatic macrosomia, mild diazoxide responsive CHI to severe persistent hyperinsulinaemic hypoglycaemia (HH) as well as diabetes mellitus in later life [7,8,9,11].
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