The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism
نویسندگان
چکیده
منابع مشابه
Molecular mechanisms of congenital hyperinsulinism.
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to severe hyperinsulinaemic hypoglycaemia (HH). At a molecular level, ...
متن کاملThe genetic basis of congenital hyperinsulinism.
Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated secretion of insulin from pancreatic beta-cells. It is a major cause of persistent hyperinsulinaemic hypoglycaemia (HH) in the newborn and infancy period. Genetically CHI is a heterogeneous condition with mutations in seven different genes described. The genetic basis of CHI involves defects in key genes which r...
متن کاملMolecular mechanisms of neonatal hyperinsulinism.
Congenital hyperinsulinism (CHI), characterized by profound hypoglycaemia related to inappropriate insulin secretion, may be associated histologically with either diffuse insulin hypersecretion or focal adenomatous hyperplasia, which share a similar clinical presentation, but result from different molecular mechanisms. Whereas diffuse CHI is of autosomal recessive, or less frequently of autosom...
متن کامل[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
متن کاملClinical and molecular characterisation of 300 patients with congenital hyperinsulinism
BACKGROUND Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. AIM To characterise the clinical and molecular aspects of a large cohort of patients with CHI. METHODOLOGY Three hundred patients were recruited and clinical information was collected before genotypi...
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ژورنال
عنوان ژورنال: Frontiers in Endocrinology
سال: 2019
ISSN: 1664-2392
DOI: 10.3389/fendo.2019.00111