[Familial hyperinsulinism].
The authors present the case history of a 2 year old child suffering from nesidioblastosis. Severe non-ketotic symptomatic hypoglycaemia developed within the first hour of birth. Diagnosis of nesidioblastosis was confirmed by high insulin concentration accompanying hypoglycaemia, the increase in blood glucose level after glucagon administration and the stabilization of blood glucose level by continuous high rate glucose infusion. Normal blood glucose concentration was achieved by combined medical treatment (diazoxide, chlorothiazide and prednisolone) and the administration of starch. The authors present by familial form of the disease with autosomal recessive inheritance pattern and stress the significance of the intrauterine diagnosis. They summarize the main diagnostic and therapeutical management of the disease with special emphasize of the early intervention in order to prevent severe brain damage.
Lásztity
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Semmelweis Orvostudományi Egyetem I. Gyermekklinika, Budapest.
Balogh
L
L
D000328:Adult; D001786:Blood Glucose; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive; D005934:Glucagon / Q000008:administration & dosage*; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007003:Hypoglycemia / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D007231:Infant, Newborn; D007260:Infusion Pumps; D011247:Pregnancy; D011296:Prenatal Diagnosis
D001786:Blood Glucose; D005934:Glucagon
Familiáris hiperinzulinizmus.