Khan Sabeen Abid, Parkash Arit, Ibrahim Mohsina
Department of Paediatric Medicine, National Institute of Child Health (NICH), Karachi.
J Coll Physicians Surg Pak. 2016 Nov;26(11):114-115.
DEND syndrome is a very rare syndrome of permanent neonatal diabetes mellitus, with an incidence of < 1/1000,000. It is defined as a triad of developmental delay, epilepsy, and neonatal diabetes. We report the case of a 9-month infant girl who presented with the most severe form of neonatal diabetes mellitus spectrum along with developmental delay and epilepsy. Genetic mutation testing confirmed mutations in KCNJ11 gene encoding the Kir6.2 subunit of the K-ATPchannel, which are involved in insulin secretion. The use of oral sulfonylureas in treatment of such patients is showing promising results worldwide. The authors strongly recommend early referral and checking for genetic mutations in all patients of neonatal diabetes mellitus.
DEND综合征是一种极为罕见的永久性新生儿糖尿病综合征，发病率<1/1000000。它被定义为发育迟缓、癫痫和新生儿糖尿病三联征。我们报告了一例9个月大的女婴病例，她表现出最严重形式的新生儿糖尿病谱，同时伴有发育迟缓和癫痫。基因突变检测证实了编码K-ATP通道Kir6.2亚基的KCNJ11基因发生突变，该基因与胰岛素分泌有关。在全球范围内，使用口服磺脲类药物治疗此类患者显示出了有前景的结果。作者强烈建议对所有新生儿糖尿病患者尽早转诊并检查基因突变。
