Neonatal hyperinsulinism: clinicopathologic correlation.
Neonatal hyperinsulinism is a life-threatening disease that, when treated by total pancreatectomy, leads to diabetes and pancreatic insufficiency. A more conservative approach is now possible since the separation of the disease into a nonrecurring focal form, which is cured by partial surgery, and a diffuse form, which necessitates total pancreas removal only in cases of medical treatment failure. The pathogenesis of the disease is now divided into K-channel disease (hyperinsulinemic hypoglycemia, familial [HHF] 1 and 2), which can mandate surgery, and other metabolic causes, HHF 3 to 6, which are treated medically in most patients. The diffuse form is inherited as a recessive gene on chromosome 11, whereas most cases of the focal form are caused by a sulfonylurea receptor 1 defect inherited from the father, which is associated with a loss of heterozygosity on the corresponding part of the mother's chromosome 11. The rare bifocal forms result from a maternal loss of heterozygosity specific to each focus. Paternal disomy of chromosome 11 is a rare cause of a condition similar to Beckwith-Wiedemann syndrome. A preoperative PET scan with fluorodihydroxyphenylalanine and perioperative frozen-section confirmation are the types of studies done before surgery when needed. Adult variants of the disease are less well defined at the present time.
Delonlay
P
P
Department of Pediatrics, Hospital Necker-Enfants Malades, Paris 75743, France.
Simon
A
A
Galmiche-Rolland
L
L
Giurgea
I
I
Verkarre
V
V
Aigrain
Y
Y
Santiago-Ribeiro
M-J
MJ
Polak
M
M
Robert
J-J
JJ
Bellanne-Chantelot
C
C
Brunelle
F
F
Nihoul-Fekete
C
C
Jaubert
F
F
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D001706:Biopsy; D044903:Congenital Hyperinsulinism / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D005629:Frozen Sections; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050417:Insulin-Secreting Cells / Q000473:pathology; D007515:Islets of Langerhans / Q000473:pathology; D009110:Munchausen Syndrome / Q000175:diagnosis; D046768:Nesidioblastosis / Q000473:pathology; D010179:Pancreas / Q000196:embryology; D015221:Potassium Channels / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011955:Receptors, Drug / Q000235:genetics; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel
D018528:ATP-Binding Cassette Transporters; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel