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Diazoxide로 치료 중인 특발성 고인슐린성 저혈당증 1례

A Case of Persistent Hyperinsulinemic Hypoglycemia Treated with Diazoxide

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참고문헌

주제분류소아과학

초록

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.

참고문헌 (18)

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관련 논문AI추천

Glutamate Dehydrogenase (GLUD1) 유전자 돌연변이에 의한 HI/HA 증후군 1례고정민, 김구환, 유환욱, 진혜영, 최진호대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2009 · 제14권 제2호Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutationBarthlen Winfried, Bikker Hennie, Mohnike Klaus, Mooij Christiaan F., Oomen Matthijs W.N., Tacke Carline E., van Albada Mirjam E., van Trotsenburg A.S. Paul, Zwaveling-Soonawala Nitash대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2021 · 제26권 제4호Congenital hyperinsulinism: diagnostic and management challenges in a developing country – case reportCheri Mathews John, Prakash Agarwal, Sandhya Sundaram, Senthil Senniappan, Suriyakumar Govindarajulu대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2017 · 제22권 제4호Congenital hyperinsulinism: current status and future perspectivesTohru Yorifuji대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2014 · 제19권 제2호Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8Antoniou Maria Christina, Bouthors Thérèse, Brusgaard Klaus, Busiah Kanetee, Christesen Henrik Thybo, Dwyer Andrew, Hauschild Michael, Hussain Khalid, Jacot Eric, Mouron-Hryciuk Julie, Roth-Kleiner Matthias, Stoppa-Vaucher Sophie대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2021 · 제26권 제1호Neonatal Diabetes Mellitus Due to KCNJ11 (KIR6.2) Mutation Successfully Treated with Sulfonylurea성세인, 안소윤, Misun Yang, Sehun Jang, Won Soon Park, Yun Sil Chang대한신생아학회 · Neonatal medicine2021 · 제28권 제2호

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