Diazoxide로 치료 중인 특발성 고인슐린성 저혈당증 1례
A Case of Persistent Hyperinsulinemic Hypoglycemia Treated with Diazoxide
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영아기에 지속적으로 고인슐린성 저혈당을 보이는 경우 저혈당증의 시작시기, 저혈당의 정도, 동반되는 임상증상, 고암모니아혈증 및 유전자 분석을 통해 원인을 규명하여 이에 따른 적절한 치료를 시행하여 심한 저혈당에 의한 신경학적 손상을 방지하는 것이 필수적이다. 저자들은 원인이 규명되지는 않았지만 diazoxide 약물 치료로 정상 혈당을 유지하고 정상 성장 및 발달을 보이고 있는 고인슐린성 저혈당증 1례를 경험하였기에 이를 보고하는 바이다.
Abstract
Congenital hyperinsulinism (CHI), the most important cause of hyperglycemia in early infancy, is a heterogenous disease characterized by dysregulation of insulin secretion. Mutations in five proteins have been associated with CHI: sulfonyl urea receptor 1; Kir 6.2; glucokinase; glutamate dehydrogenase and mitochondrial enzyme short-chain 3-hydroxyacyl-coenzyme A dehydrogenase. Early recognition of hypoglycemia, diagnosis of CHI and appropriate management of the hypoglycemia are of the utmost importance to prevent neurologic damage. We report a case of persistent hyperinsulinemic hypoglycemia in 8-month-old male infant. This patient has no mutation in previously mentioned genes. Treatment with diazoxide was successful without any severe side effects in this patient.
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