Severe Persistent Hyperinsulinemic Hypoglycemia due to a De Novo Glucokinase Mutation
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چکیده
منابع مشابه
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
Glucokinase (GK) is a glycolytic key enzyme that functions as a glucose sensor in the pancreatic beta-cell, where it governs glucose-stimulated insulin secretion (GSIS). Heterozygous inactivating mutations in the glucokinase gene (GCK) cause a mild form of diabetes (maturity-onset diabetes of the young [MODY]2), and activating mutations have been associated with a mild form of familial hyperins...
متن کاملPersistent hyperinsulinemic hypoglycemia of infancy.
OBJECTIVE To study the nature and clinical course of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) due to nesidioblastosis. DESIGN Clinical, laboratory and therapeutic evaluation of infants with this disorder and study the outcome. SETTING Hospital born neonates and infants referred from other hospitals. SUBJECTS Thirteen infants from 9 families inclusive of four pairs of sib...
متن کاملTherapy for Persistent Hyperinsulinemic Hypoglycemia of Infancy
The neonatal disorder persistent hyperinsulinemic hypoglycemia of infancy (PHHI) arises as the result of mutations in the subunits that form the ATP-sensitive potassium (K ATP ) channel in pancreatic b cells, leading to insulin hypersecretion. Diazoxide (a specific K ATP channel agonist in normal b cells) and somatostatin (octreotide) are the mainstay of medical treatment for the condition. To ...
متن کاملPersistent Hyperinsulinemic Hypoglycemia of Infancy: A Rare Case with Multiple Anomalies
Background: Few cases of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) have been reported, so far. The main concern in the management of PHHI is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation. Total or subtotal pancreatectomy is normally required for the infants, despite the availability of medical therapies. Case report: In this report...
متن کامل[Persistent hyperinsulinemic hypoglycemia of infancy: case report]
OBJECTIVE: To report a case of Persistent Hyperinsulinemic Hypoglycemia in twins which is a situation not yet reported in the literature. METHODS: Report of seizures in identical twins, from consanguineous parents, with persistent hypoglycemia as cause of the seizures. Laboratory tests, performed for etiological investigation of the hypoglycemia, included thyroid hormones (T4/TSH), insulin, cor...
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ژورنال
عنوان ژورنال: Diabetes
سال: 2004
ISSN: 0012-1797,1939-327X
DOI: 10.2337/diabetes.53.8.2164