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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Korean Academy of Medical Sciences
2017
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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. |
format | Online Article Text |
id | pubmed-5426229 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | The Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
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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