Neonatal hyperinsulinism: clinicopathologic correlation.
Hum Pathol
; 38(3): 387-99, 2007 Mar.
Article
em En
| MEDLINE
| ID: mdl-17303499
ABSTRACT
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.
Buscar no Google
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Hiperinsulinismo Congênito
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Hum Pathol
Assunto da revista:
PATOLOGIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
França