CAJ | 학술논문

目的对12例自行缓解的先天性高胰岛素血症（CHI）患儿的临床特征及随访资料进行回顾性分析，以期为CHI患儿治疗提供理论依据。方法选取2008年12月至2014年1月间首都医科大学附属北京儿童医院收治且自行缓解的12例CHI患儿为研究对象，对患儿的临床资料及后期随访数据进行分析。结果12例患儿的血糖不需要药物治疗，或者是停用药物后即可维持正常血糖至少3个月，提示该组为自行缓解的CHI患儿。其中4例患儿未服用任何药物仅需加强喂养即可自行缓解，另8例患儿均接受了二氮嗪治疗后逐渐减停药物后获得缓解，其中5例有效，3例无效；8例患儿中有1例患儿同时接受了二氮嗪及奥曲肽治疗，且均有效。12例患儿起病年龄均在1岁以内，且多于6个月以内起病（10/12），多为足月适于胎龄儿（7/12），另有巨大儿4例，足月小于胎龄儿1例。12例患儿中，有7例（7/12）于1岁以内低血糖症状缓解，最晚缓解年龄为6岁，其中有4例患儿检测出携带ABCC8基因突变。结论部分CHI患儿有自行缓解的趋势，应延长患儿的随访年龄，对二氮嗪治疗无效的CHI患儿应谨慎选择手术治疗，从而最大限度地避免术后并发症的发生。
목적대12례자행완해적선천성고이도소혈증（CHI）환인적림상특정급수방자료진행회고성분석，이기위CHI환인치료제공이론의거。방법선취2008년12월지2014년1월간수도의과대학부속북경인동의원수치차자행완해적12례CHI환인위연구대상，대환인적림상자료급후기수방수거진행분석。결과12례환인적혈당불수요약물치료，혹자시정용약물후즉가유지정상혈당지소3개월，제시해조위자행완해적CHI환인。기중4례환인미복용임하약물부수가강위양즉가자행완해，령8례환인균접수료이담진치료후축점감정약물후획득완해，기중5례유효，3례무효；8례환인중유1례환인동시접수료이담진급오곡태치료，차균유효。12례환인기병년령균재1세이내，차다우6개월이내기병（10/12），다위족월괄우태령인（7/12），령유거대인4례，족월소우태령인1례。12례환인중，유7례（7/12）우1세이내저혈당증상완해，최만완해년령위6세，기중유4례환인검측출휴대ABCC8기인돌변。결론부분CHI환인유자행완해적추세，응연장환인적수방년령，대이담진치료무효적CHI환인응근신선택수술치료，종이최대한도지피면술후병발증적발생。
Objective To provide a more reasonable therapeutic schedule for congenital hyperinsulinism (CHI) children and to analyze the clinical characteristics and follow-up data of the 12 cases with CHI whose symptoms alleviated spontaneously. Methods We choosed 12 patients with CHI whose symptoms alleviated spontaneously, hospitalized in Beijing Children′s Hospital from December 2008 to January 2014,as research subjects. The clinical data and post follow-up data were analyzed retrospectively. Results The 12 patients can maintain normal blood glucose for at least three months without drug treatment or after stopping the drug, which suggest that the group of children with CHI could relieve itself. The hypoglycemia relieved in 4 patients only by strengthening the feeding, and the other 8 children relieved gradually after diazoxide and (or) octreotide treatment. The onset age of the 12 children were all less than one year, and most of them younger than six months at onset (10/12). Most of them were appropriate for gestational age (7/12), 4 patients of them were born as macrosomia and the other one was small for gestional age. Seven cases of them alleviated in less than one year old (7/12), and the latest age of alleviation was 6 years. Four children were found carrying the mutation of ABCC8 gene. Conclusion Some children with CHI have the tendency of spontaneous remission, and the follow-up time should be extended. Especially for children with CHI who are not responsive to diazoxide, surgical treatment should be considered cautiously to avoid serious surgical complications .