[Congenital hyperinsulinism in newborn and infant]. / L'hyperinsulinisme congénital du nouveau-né et du nourrisson.
Arch Pediatr
; 12(11): 1628-35, 2005 Nov.
Article
em Fr
| MEDLINE
| ID: mdl-16198094
ABSTRACT
Congenital hyperinsulinism (HI) is the most important cause of hypoglycaemia in early infancy. The inappropriate oversecretion of insulin is responsible for profound hypoglycaemias requiring aggressive treatment to prevent severe and irreversible brain damage. Several classifications of HI can be attempted, based on 1) the onset of hypoglycemia in the neonatal period or later in infancy; 2) the histological lesion focal or diffuse; 3) the genetic transmission sporadic, recessive, or less frequently dominant. The most common underlying mechanism of HI is dysfunction of the pancreatic ATP-sensitive potassium channel (K(+)(ATP)). The 2 subunits of the K(+)(ATP) channel are encoded by either the sulfonylurea receptor gene (SUR1 or ABCC8) or the inward-rectifying potassium channel gene (KIR6.2. or KCNJ11), both located in the 11p15.1 region. Focal CHI has been shown to result from a paternally inherited mutation on the SUR1 or KIR6.2 gene and loss of the maternal 11p15 allele restricted to the pancreatic lesion. Diffuse HI, frequently due to mutations of the SUR1 or KIR6.2 genes of autosomal recessive inheritance is genetically heterogeneous. The distinction between the focal and the diffuse HI is very important, because the treatments are different. To distinguish between focal and diffuse HI, transhepatic catheterisation with pancreatic venous sampling was the reference technique, but will likely be replaced by [(18)F] Fluoro-L-Dopa PET scan, which is easier to perform. In absence of response to the medical treatment (diazoxide) a limited pancreatectomy permits to cure focal HI, while a diffuse HI requires a subtotal pancreatectomy with high risk of subsequent diabetes mellitus.
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Base de dados:
MEDLINE
Assunto principal:
Receptores de Droga
/
Canais de Potássio
/
Transportadores de Cassetes de Ligação de ATP
/
Canais de Potássio Corretores do Fluxo de Internalização
/
Hiperinsulinismo Congênito
Idioma:
Fr
Ano de publicação:
2005
Tipo de documento:
Article