行胰腺切除术的12例先天性高胰岛素血症的临床随访和遗传学分析

Clinical follow-up and genetic analysis of 12 patients with congenital hyperinsulinism after pancreatectomy

目的对12例接受胰腺切除术治疗的先天性高胰岛素血症（CHI）患儿的临床资料和基因检测结果进行回顾性分析，并对胰腺切除术治疗CHI的效果及预后进行探讨。方法选取2002年2月至2016年1月由首都医科大学附属北京儿童医院收治并行胰腺切除术治疗的12例CHI患儿为研究对象，对其临床资料、诊疗经过、基因检测结果进行了回顾性分析，对胰腺切除术治疗CHI的效果及预后等情况进行了研究。结果12例CHI患儿中，8例对二氮嗪治疗无效，4例对二氮嗪疗效不确切。12例患儿术前均患有严重的低血糖症，行不同程度的胰腺切除术治疗后，4例血糖正常，4例低血糖症状好转，3例分别于术后1个月、3年和10年发展为1型糖尿病，1例失访。12例患儿中，有8例进行了ABCC8和KCNJ11基因测序分析，发现1例移码突变、2例无义突变和3例错义突变。结论胰腺部分切除术对局灶型CHI患儿有着良好的治疗效果。胰腺次全切除术后患儿有较高的低血糖发作和1型糖尿病风险。

Objective To analyze the therapeutic effect and prognosis of pancreatectomy in 12 patients with congenital hyperinsulinism （CHI）. Methods Total of 12 patients with CHI, hospitalized in Beijing Children＇s Hospital Affiliated to Capital Medical University from February 2002 to January 2016, were-set as research subjects. All the patients received pancreatectomy. A retrospective study was done for the clinical data, therapeutic effects and gene tests of the 12 patients. Results Most patients （8/12） had no response to diazoxide treatment and the effects of diazoxide were uncertain in the rest four patients. Four patients were completely cured, four patients remained hypoglycaemic, and three patients were diagnosed with type 1 diabetes after pancreatectomy. In the eight patients who received ABCC8 and KCNJ11 gene tests, one frameshift mutation, two nonsense mutations and three missense mutations were found. Conclusions Partial pancreatectomy is an effective treatment for focal CHI patients. Patients with diffuse disease who undergo near-total pancreatectomy may remain hypoglycemic and have a high risk of hypoglycemia and type 1 diabetes.