title: Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra.
abstract: Congenital hyperinsulinism (CHI) is a common cause of hypoglycemia in infants. We report three cases of CHI with differing clinical, biochemical, and molecular genetic spectra. One patient was unresponsive to medical treatment and died after subtotal pancreatectomy because of complications due to the surgery. Two patients have been followed successfully with medical treatment. Early diagnosis and appropriate treatment of CHI are essential to prevent morbidity and mortality.
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics University College London, London, United Kingdom. enversimsek06@hotmail.com.
authors.forename: Enver
authors.initials: E
authors.lastname: Şimşek
authors.forename: Çiğdem
authors.initials: Ç
authors.lastname: Binay
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
authors.forename: Sare
authors.initials: S
authors.lastname: Kabukçuoğlu
mesh_terms: D001786:Blood Glucose / Q000378:metabolism*; D044903:Congenital Hyperinsulinism / Q000235:genetics* / Q000378:metabolism / Q000601:surgery; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000097:blood*; D050417:Insulin-Secreting Cells / Q000378:metabolism*; D008297:Male; D009154:Mutation; D010180:Pancreatectomy; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics / Q000378:metabolism; D064233:Sulfonylurea Receptors / Q000235:genetics / Q000378:metabolism; D000099161:Kcnj11 Channel
chemical_list: D001786:Blood Glucose; D004247:DNA; D005819:Genetic Markers; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human