新生儿期起病的糖尿病21例临床分析

Neonatal onset diabetes mellitus:clinical analysis of 21 cases

目的了解新生儿期起病的糖尿病患儿临床特点。方法选择2003年1月至2020年12月复旦大学附属儿科医院收治的新生儿期起病的糖尿病患儿进行回顾性分析, 包括患儿基本情况、母孕期情况、家族史、临床表现、实验室检查、诊治过程及预后等。结果共纳入21例新生儿期起病的糖尿病患儿, 男13例, 女8例;足月儿16例, 早产儿5例, 胎龄34~40周;出生体重1 420~3 450 g, 低出生体重儿14例, 极低出生体重儿2例, 小于胎龄儿13例。4例有糖尿病家族史。10 d内起病10例, 11~20 d起病4例, 21~28 d起病7例。21例患儿均以高血糖为主要特征, 均有多次血糖≥11.1 mmol/L, 最高41.98 mmol/L。2例合并酮症酸中毒;合并感染8例。6例患儿进行了基因检测, ABCC8基因变异2例, KCNJ11、INS基因变异各1例, 检测结果阴性2例。治疗初期主要应用胰岛素, 此后9例改格列本脲口服。15例经治疗后血糖稳定, 病情好转带药出院;5例家长要求自动出院;1例合并其他疾病、病情重, 家长放弃治疗死亡。结论新生儿期起病的糖尿病通过早期识别与诊断, 有助于选择合适的治疗方案, 取得较好的临床效果。

Objective To study the clinical characteristics of neonatal onset of diabetes mellitus.Methods Neonatal onset diabetes mellitus infants admitted to Children's Hospital of Fudan University from January 2003 to December 2020 were selected for retrospective analysis.All clinical characteristics including the basic conditions,family history,clinical manifestations,laboratory examination,diagnosis and treatment were recorded and analyzed.Results There were 21 cases of diabetes mellitus diagnosed during neonatal period,including 13 males and 8 females.There were 16 term infants and 5 premature infants with gestational age between 34 weeks and 40 weeks.The birth weight ranged from 1420 g to 3450 g,including 14 low birth weight infants,2 very low birth weight infants and 13 small for gestational age infants.Four infants had family history of diabetes.All diabetic infants with onset time within 28 days after birth included 10 cases within 10 days,4 cases between 11 days and 20 days,7 cases between 21 days and 28 days.Hyperglycemia was the main feature of 21 infants,and their blood glucose was≥11.1 mmol/L for many times,with a maximum of 41.98 mmol/L.Only 2 cases had ketoacidosis and 8 cases were complicated with infections.Genetic testing was performed in 6 neonates,2 cases of ABCC8 gene pathogenic variant,1 case of KCNJ11 and 1 case of INS pathogenic variant,and 2 cases of negative results.Insulin was mainly used in the initial stage of treatment,and then orally glibenclamide was taken in 9 infants.After treatment,15 patients had stable blood glucose and were discharged with medication.5 infants were withdrawn the treatment and discharged,and 1 infant combined with other serious illness died after giving up the treatment by the parents.Conclusions When diabetes is diagnosed during the neonatal period,it is helpful to choose the appropriate treatment and get good results.