Familial Focal Congenital Hyperinsulinism
نویسندگان
چکیده
منابع مشابه
[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 کاملA Case Series: Congenital Hyperinsulinism
INTRODUCTION Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause o...
متن کاملMolecular 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 کاملHyperinsulinism: molecular aetiology of focal disease.
Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cau...
متن کاملPredictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinism.
Congenital hyperinsulinism (CHI) is the most frequent cause of persistent hypoglycemia in infants (1). Early diagnosis and management are mandatory to prevent permanent brain damage. Two main forms are distinguished based on anatomical and genetic characteristics: the focal and the diffuse forms (2). In focal forms, the complete removal of the lesion allows the cure of the disease, but residual...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2011
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2010-1524