Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation
Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potas...
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Korean Pediatric Society
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doaj-3218e3764d9e4280b74c0db27e0919e02020-11-24T21:19:25ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582015-08-0158830931210.3345/kjp.2015.58.8.30920125550486Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutationSung Yeon Ahn0Gu-Hwan Kim1Han-Wook Yoo2Department of Pediatrics, Ulsan University Hospital, Ulsan, Korea.Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potassium (KATP) channel, are the most common causes of permanent neonatal diabetes mellitus. Sulfonylureas close the KATP channel and increase insulin secretion. KCNJ11 and ABCC8 mutations have important therapeutic implications because sulfonylurea therapy can be effective in treating patients with mutations in the potassium channel subunits. The mutation type, the presence of neurological features, and the duration of diabetes are known to be the major factors affecting the treatment outcome after switching to sulfonylurea therapy. More than 30 mutations in the KCNJ11 gene have been identified. Here, we present our experience with a patient carrying a novel p.H186D heterozygous mutation in the KCNJ11 gene who was successfully treated with oral sulfonylurea.http://kjp.or.kr/upload/pdf/kjped-58-309.pdfPermanent neonatal diabetes mellitusKCNJ11Sulfonylurea compounds |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sung Yeon Ahn Gu-Hwan Kim Han-Wook Yoo |
spellingShingle |
Sung Yeon Ahn Gu-Hwan Kim Han-Wook Yoo Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation Korean Journal of Pediatrics Permanent neonatal diabetes mellitus KCNJ11 Sulfonylurea compounds |
author_facet |
Sung Yeon Ahn Gu-Hwan Kim Han-Wook Yoo |
author_sort |
Sung Yeon Ahn |
title |
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation |
title_short |
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation |
title_full |
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation |
title_fullStr |
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation |
title_full_unstemmed |
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation |
title_sort |
successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation |
publisher |
Korean Pediatric Society |
series |
Korean Journal of Pediatrics |
issn |
1738-1061 2092-7258 |
publishDate |
2015-08-01 |
description |
Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potassium (KATP) channel, are the most common causes of permanent neonatal diabetes mellitus. Sulfonylureas close the KATP channel and increase insulin secretion. KCNJ11 and ABCC8 mutations have important therapeutic implications because sulfonylurea therapy can be effective in treating patients with mutations in the potassium channel subunits. The mutation type, the presence of neurological features, and the duration of diabetes are known to be the major factors affecting the treatment outcome after switching to sulfonylurea therapy. More than 30 mutations in the KCNJ11 gene have been identified. Here, we present our experience with a patient carrying a novel p.H186D heterozygous mutation in the KCNJ11 gene who was successfully treated with oral sulfonylurea. |
topic |
Permanent neonatal diabetes mellitus KCNJ11 Sulfonylurea compounds |
url |
http://kjp.or.kr/upload/pdf/kjped-58-309.pdf |
work_keys_str_mv |
AT sungyeonahn successfulsulfonylureatreatmentinapatientwithpermanentneonataldiabetesmellituswithanovelmutation AT guhwankim successfulsulfonylureatreatmentinapatientwithpermanentneonataldiabetesmellituswithanovelmutation AT hanwookyoo successfulsulfonylureatreatmentinapatientwithpermanentneonataldiabetesmellituswithanovelmutation |
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