Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy and Mutations in the Sulfonylurea Receptor
نویسندگان
چکیده
منابع مشابه
Persistent 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 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...
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 کاملThe focal form of persistent hyperinsulinemic hypoglycemia of infancy.
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a disorder characterized by unregulated insulin release, leading to profound hypoglycemia with a major risk of brain damage if not recognized early. The occurrence of PHHI is low in the Western world (~1/50,000 live births), but it can be as high as 1/2,500 live births in communities with high consanguinity. PHHI may be differentiate...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 1997
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejm199703063361005