二氮嗪治疗先天性高胰岛素血症7例

Effect of Diazoxide Treatment on 7 Children with Congenital Hyperinsulinism

目的分析二氮嗪试验性治疗先天性高胰岛素血症(CHI)的疗效。方法回顾性分析2006-2008年本院收治并经实验室检查诊断为CHI,并试用二氮嗪治疗的7例患儿(男5例;女2例;起病年龄2d～4个月;出生体质量2.65～4.60kg)的临床资料,并对其方法及疗效进行分析。结果 7例患儿确诊CHI后,均应用二氮嗪进行7～10d的试验性治疗。其中5例均为新生儿期以后起病,经治疗后,血糖逐渐恢复至正常水平,对二氮嗪治疗有效。2例分别于出生2d和出生1个月起病,治疗10d后,仍呈现严重而持续的低血糖症,对二氮嗪治疗无效。结论因部分CHI患儿的细胞具有功能正常的ATP敏感性钾通道,应用二氮嗪治疗有效,因此对确诊CHI的患儿应首先试用二氮嗪治疗。

Objective To analyze the effect of diazoxide treatment on children with congenital hyperinsulinism（CHI）.Methods Clinical data of 7 children （male 5 cases,female 2 cases;aged from 2 days to 4 months;birth weight 2.65-4.60 kg） with CHI hospitalized in Beijing Children′s Hospital from 2006 to 2008 were analyzed retrospectively and the treatment methods and effects of diazoxide on CHI were eva-luated.Results Of the 7 children who were studied,blood glucose of 5 cases recovered to normal level gradually after using diazoxide,indicated that these 5 children respond to treatment of diazoxide.Two cases still showed seriously hypoglycemia after using diazoxide for 10 days,which indicated that 2 children had no reaction to diazoxide.Conclusions Because of having normal functional KATP channel,partial patients with CHI will respond to treatment of diazoxide.Thus,diazoxide should be used as a trial immediately after CHI diagnosis was made.