Iyigun Fatma, Ozcan Beyza, Kulali Ferit, Celik Istemi Han, Cetinkaya Semra, Bas Ahmet Yagmur, Demirel Nihal
Department of Neonatology, Etlik Zubeyde Hanim Women's Health Teaching and Research Hospital, Ankara 06010, Turkey.
Department of Neonatology, Konya Teaching and Research Hospital, Konya 42090, Turkey.
J Trop Pediatr. 2017 Oct 1;63(5):399-401. doi: 10.1093/tropej/fmx005.
Hyperglycemia commencing within the first 6 months of life requires exogenous insulin therapy and, if the condition persists for >2 weeks, is termed neonatal diabetes mellitus (NDM). This rare illness is of two types: transient and permanent NDM. Most cases come to medical attention because of nonspecific symptoms, including intrauterine growth retardation, dehydration, difficulties in feeding and inadequate weight gain. In the present article, we describe an infant who smelt of ketones during examination and who was diagnosed with transient NDM caused by a ZFP57 mutation, accompanied by ketoacidosis. This is the first report of such a condition.
出生后6个月内开始出现的高血糖症需要外源性胰岛素治疗，如果这种情况持续超过2周，则称为新生儿糖尿病（NDM）。这种罕见疾病有两种类型：暂时性和永久性NDM。大多数病例因非特异性症状引起医疗关注，包括宫内生长迟缓、脱水、喂养困难和体重增加不足。在本文中，我们描述了一名在检查时闻到酮味的婴儿，该婴儿被诊断为由ZFP57突变引起的暂时性NDM，并伴有酮症酸中毒。这是此类病症的首例报告。
