Permanent neonatal diabetes mellitus in China

BMC Pediatrics

Case Report

Guan-pin Dong¹  Ke Huang¹  Jun-feng Fu¹  Li Liang² 

[1] Department of Endocrinology, Children’s Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, 310003, Hangzhou, China;Department of Endocrinology, Children’s Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, 310003, Hangzhou, China;Department of Pediatrics, The First Affiliated Hospital of Zhejiang University, 79 Qingchun Road, 310003, Hangzhou, China;

关键词: Permanent neonatal diabetes mellitus;    Genetic analysis;    Therapy;   

DOI  :  10.1186/1471-2431-14-188

 received in 2014-01-16, accepted in 2014-07-18,  发布年份 2014

来源: Springer

【 摘 要 】

BackgroundPermanent neonatal diabetes mellitus (PNDM) is a rare disease, which is defined as the onset of diabetes before the age of 6 months with persistence through life. Infants with KCNJ11 or ABCC8 genetic mutations may respond to oral sulfonylurea therapy. Currently, there are limited studies about the genetic analysis and long-term follow-up of PNDM.Case presentationWe report four cases of PNDM. None of the infants or their parents had INS, KCNJ11, or ABCC8 genetic mutations. One infant underwent continuous subcutaneous insulin infusion (CSII) and the other infants underwent multiple injections of insulin (MII). In these infants, PNDM persisted from 35 months to 60 months of follow-up. Three infants maintained fairly stable blood sugar levels, and one infant had poor sugar control.ConclusionsWe suggest that all of the infants with PNDM should undergo genetic evaluation. For infants without KCNJ11 and ABCC8 genetic mutations, oral sulfonylurea should not be considered as treatment. CSII is a useful method for overcoming the difficulties of diabetes, and it may also improve the quality of life of both infants and their parents.

【 授权许可】

Unknown   
© Huang et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.