先天性高胰岛素血症68例回顾性临床分析

A retrospective clinical analysis of 68 patients with congenital hyperinsulinism

目的总结68例先天性高胰岛素血症（CHI）患儿的临床资料，对CHI的临床特征及诊疗策略进，亍分析。方法选取2002年2月至2011年12月期间由首都医科大学附属北京儿童医院内分泌科收治的CHI患儿68例为研究对象。收集患儿的临床资料，对CHI的临床特征及诊治情况等进行回顾性分析。结果68例患儿巾，46例患儿确诊CHI后曾予以二氮嗪进行试验性治疗，其中36例有效，10例无效。1例对二氮嗪无效的患儿曾试用奥曲肽进行治疗并且有效，后因出现严重消化道症状予以停用.5例患儿曾行胰腺次全切除术治疗，其中4例术后血糖基本恢复至正常水平。1例于术后不久出现糖尿病。结论（1）二氮嗪为CHI内科治疗的首选药物，具有较高的安全性。（2）奥曲肽为CHI治疗的二线药物，对二氮嗪治疗无效的患儿，可试用奥曲肽进行治疗。（3）对于二氮嗪治疗无效的患儿，胰腺次全切除术是有效控制低血糖发生的手段之一。但由于目前国内尚无术前区分CHI病理学分型的有效手段，胰腺术式的选择仍存在一定的肓目性．

Objective To analyze the clinical characteristics and treatment strategy in 68 patients with congenital hyperinsulinism（CHI）. Methods Sixty-eight patients with CHI hospitalized from February, 2002 to December, 2011 were recruited. Clinical data of the patients were collected and the clinical characteristics and treatment methods were retrospectively analyzed. Results Among the 68 patients, 46 were treated with diazoxide as a trial for 7-10 days. 36 of these patients were responsive to diazoxide, while the other 10 patients were unresponsive. 1 patient who was unresponsive to diazoxide was treated with nctreotide as a trial for 12 days with some effect, but eventually the treatment was stopped due to serious gastrointestinal side effeels. 5 patients were treated with subtotal pancreatectomy, achieving in nearly normal blood glucose levels after surgery in 4 eases, and the rest 1 patient having diabetes mellitus 1 month after operation. Conclusions （ 1 ） Diazoxide is the first choice in treating CHI with relatively high efficacy and satety.（ 2 ） Octreotide is the second-line medicine to treat CHI. For the patients unresponsive to diazoxide, octreotide may be chosen as a trial to control serious hypoglycemia. （ 3 ） For the patients unresponsive to diazoxide, subtotal panereatectomy is one of the effective methods to control hypoglycemia. Since there is no effective way to discriminate the pathological types of CHI, the choice of pancreatectomy remains optional.