Singh Poonam, Rao Sudha Chandrashekhar, Parikh Ruchi
Department of Pediatrics, Division of Pediatric Endocrinology, B. J. Wadia Hospital for Children, Parel, Mumbai, India,
Indian J Pediatr. 2014 Dec;81(12):1387-8. doi: 10.1007/s12098-014-1486-4. Epub 2014 Jun 10.
Permanent Neonatal Diabetes Mellitus (PNDM), is a rare monogenic disorder, caused by activating mutations of the KATP channel. The most severe clinical form of PNDM presents as Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Diagnosis is confirmed by genetic mutation testing. Oral sulfonylurea therapy improves neurological outcome.
永久性新生儿糖尿病(PNDM)是一种罕见的单基因疾病,由KATP通道的激活突变引起。PNDM最严重的临床形式表现为发育迟缓、癫痫和新生儿糖尿病(DEND)综合征。通过基因突变检测确诊。口服磺脲类药物治疗可改善神经学预后。