2024/12/31 by J Methlouthi., A Ennouri, C Saint Martin +5
#Benin #Génétique #Hyperinsulinisme #Hypoglycémie #Nouveau-né #Pancréatectomie #Seizures with fever #bacterial meningitis #children #severe malaria
paper · doi:10.71566/pist-rmp-194987
Congenital hyperinsulinism (CHI) is the most common cause of severe hypoglycemia in neonatal period or infancy. It is related to an inappropriate insulin secretion which is dangerous because of the risk of cerebral consequences. Over the past 20 years, the diagnosis and management of CHI have made a remarkable progress: recent developments in the understanding of the pathogenesis of HI and the use of a reference technique such as PET scan , have helped in deciding the optimal management strategy for each patient. The most common cause of HI is the dysfunction of the ATP-potassium channel which is composed of 2 subunits encoded by the sulfonylurea receptor gene (SUR 1 or ABCC8 ) or the inward-rectifying potassium channel gene (KIR 6. 2 or KCNJ11), both located in the 11p15. 1 region. Differentiation between diffuse and focal forms is important because of difference in management and treatment. Diazoxide is the drug of choice in medical treatment of CHI. In absence of response to medical treatment, pancreatectomy has to be considered . We present two cases of familial HI . Clinical presentation, treatment modalities and genetic diagnostic are discussed. Mots clés : Convulsions avec fièvre , enfants , paludisme grave , méningite purulente, Bénin.