Hewes Hilary A, Dudley Nanette C, Adelgais Kathleen M
Division of Pediatric Emergency Medicine, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Pediatr Emerg Care. 2010 Dec;26(12):930-1. doi: 10.1097/PEC.0b013e3181fe91a4.
We present a case of an 8-day-old infant boy with transient neonatal diabetes mellitus who presented to our emergency department with profound dehydration, failure to thrive, and hyperglycemia. The initial ill appearance of the patient required attention to a broad differential diagnosis including cardiac, metabolic, endocrine, and infectious processes. Transient neonatal diabetes mellitus is one of several causes of severe hyperglycemia in the neonatal period and is caused by genetic imprinting at the 6q24 region. It requires specific genetic testing for diagnosis. This case illustrates initial management of and recommended laboratory testing in neonates presenting with possible transient neonatal diabetes mellitus.
我们报告一例8日龄男婴患短暂性新生儿糖尿病,该患儿因严重脱水、生长发育迟缓及高血糖前来我院急诊科就诊。患儿最初的不良表现需要考虑广泛的鉴别诊断,包括心脏、代谢、内分泌和感染性疾病。短暂性新生儿糖尿病是新生儿期严重高血糖的几种病因之一,由6q24区域的基因印记引起。其诊断需要进行特定的基因检测。本病例说明了患有可能的短暂性新生儿糖尿病的新生儿的初始管理及推荐的实验室检查。