Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report.
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.
Peranteau
William H
WH
The Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Ganguly
Arupa
A
Steinmuller
Laura
L
Thornton
Paul
P
Johnson
Mark P
MP
Howell
Lori J
LJ
Stanley
Charles A
CA
Adzick
N Scott
NS
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
C577507:ABCC8 protein, human; D018528:ATP-Binding Cassette Transporters; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors