Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations

Aims/hypothesis Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH). As controversy exists over whether these mutations predispose to diabetes in adulthood we investigated the prevalence of diabetes in famili...

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Veröffentlicht in:	Diabetologia 2011-10, Vol.54 (10), p.2575-2583
Hauptverfasser:	Kapoor, R. R., Flanagan, S. E., James, C. T., McKiernan, J., Thomas, A. M., Harmer, S. C., Shield, J. P., Tinker, A., Ellard, S., Hussain, K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Adults Aged Asymptomatic ATP-Binding Cassette Transporters - genetics Biological and medical sciences Birth weight Diabetes Mellitus - etiology Diabetes Mellitus - genetics Diabetes. Impaired glucose tolerance Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Families & family life Female Genotype & phenotype Gestational diabetes Glucose Hospitals Human Physiology Humans Hyperinsulinism - etiology Hyperinsulinism - genetics Hypoglycemia Hypoglycemia - etiology Hypoglycemia - genetics Insulin Internal Medicine Male Medical sciences Medicine Medicine & Public Health Metabolic Diseases Metabolism Middle Aged Mutation Potassium Potassium Channels, Inwardly Rectifying - genetics Receptors, Drug - genetics Sulfonylurea Receptors Young Adult
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