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DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea

Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (K(ATP) channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on...

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Autores principales: Cho, Ja Hyang, Kang, Eungu, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426229/
https://www.ncbi.nlm.nih.gov/pubmed/28480665
http://dx.doi.org/10.3346/jkms.2017.32.6.1042
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author Cho, Ja Hyang
Kang, Eungu
Lee, Beom Hee
Kim, Gu-Hwan
Choi, Jin-Ho
Yoo, Han-Wook
author_facet Cho, Ja Hyang
Kang, Eungu
Lee, Beom Hee
Kim, Gu-Hwan
Choi, Jin-Ho
Yoo, Han-Wook
author_sort Cho, Ja Hyang
collection PubMed
description Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (K(ATP) channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia. Insulin therapy was initiated. At 10 months of age, the patient was unable to hold his head up and make eye contact with others. At 17.9 years of age, direct sequencing of KCNJ11 identified a heterozygous mutation of c.602G>A (p.R201H). Since then, treatment with gliclazide was initiated and the insulin dose was gradually reduced. Following 3 months, insulin was discontinued with a gliclazide dose of 2.4 mg/kg. The patient continued to have excellent glycemic control with a glycated hemoglobin (HbA1c) level of 5.8% after 5 months. However, the patient's psychomotor retardation did not improve. This study reports the first case of DEND syndrome in Korea caused by a KCNJ11 mutation and emphasizes the necessity to screen mutations in K(ATP) channel genes in patients with neonatal diabetes.
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spelling pubmed-54262292017-06-01 DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea Cho, Ja Hyang Kang, Eungu Lee, Beom Hee Kim, Gu-Hwan Choi, Jin-Ho Yoo, Han-Wook J Korean Med Sci Case Report Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (K(ATP) channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia. Insulin therapy was initiated. At 10 months of age, the patient was unable to hold his head up and make eye contact with others. At 17.9 years of age, direct sequencing of KCNJ11 identified a heterozygous mutation of c.602G>A (p.R201H). Since then, treatment with gliclazide was initiated and the insulin dose was gradually reduced. Following 3 months, insulin was discontinued with a gliclazide dose of 2.4 mg/kg. The patient continued to have excellent glycemic control with a glycated hemoglobin (HbA1c) level of 5.8% after 5 months. However, the patient's psychomotor retardation did not improve. This study reports the first case of DEND syndrome in Korea caused by a KCNJ11 mutation and emphasizes the necessity to screen mutations in K(ATP) channel genes in patients with neonatal diabetes. The Korean Academy of Medical Sciences 2017-06 2017-04-11 /pmc/articles/PMC5426229/ /pubmed/28480665 http://dx.doi.org/10.3346/jkms.2017.32.6.1042 Text en © 2017 The Korean Academy of Medical Sciences. https://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Cho, Ja Hyang
Kang, Eungu
Lee, Beom Hee
Kim, Gu-Hwan
Choi, Jin-Ho
Yoo, Han-Wook
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
title DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
title_full DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
title_fullStr DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
title_full_unstemmed DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
title_short DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
title_sort dend syndrome with heterozygous kcnj11 mutation successfully treated with sulfonylurea
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426229/
https://www.ncbi.nlm.nih.gov/pubmed/28480665
http://dx.doi.org/10.3346/jkms.2017.32.6.1042
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