title: Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report.
abstract: We present the first case of the prenatal diagnosis of congenital hyperinsulinism based on the genetic analysis of known family mutations in the SUR1 gene. An amniocentesis was performed at 16 weeks gestation at which time two mutations in the SUR1 gene were identified consistent with the diagnosis of diffuse hyperinsulinism. The mother was transported to our facility and underwent an elective caesarian section at 38 weeks gestation. The diagnosis was confirmed and treatment was initiated within the first minutes of life. After a short course of failed medical management, the patient underwent a 98% pancreatectomy with subsequent good glycemic control. This case highlights the benefits of the timely in utero diagnosis of hyperinsulinism by mutational analysis.
authors.affiliation: The Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors.forename: William H
authors.initials: WH
authors.lastname: Peranteau
authors.forename: Arupa
authors.initials: A
authors.lastname: Ganguly
authors.forename: Laura
authors.initials: L
authors.lastname: Steinmuller
authors.forename: Paul
authors.initials: P
authors.lastname: Thornton
authors.forename: Mark P
authors.initials: MP
authors.lastname: Johnson
authors.forename: Lori J
authors.initials: LJ
authors.lastname: Howell
authors.forename: Charles A
authors.initials: CA
authors.lastname: Stanley
authors.forename: N Scott
authors.initials: NS
authors.lastname: Adzick
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000649:Amniocentesis; D044903:Congenital Hyperinsulinism / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010180:Pancreatectomy; D015221:Potassium Channels / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011247:Pregnancy; D011955:Receptors, Drug / Q000235:genetics; D064233:Sulfonylurea Receptors
chemical_list: C577507:ABCC8 protein, human; D018528:ATP-Binding Cassette Transporters; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors