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目的 分析先天性高胰岛素血症(congenital hyperinsulinism,CHI)的临床诊治和基因突变情况,丰富CHI基因突变谱.方法 回顾性分析广西壮族自治区妇幼保健院新生儿科2016年11月至2018年11月收治的CHI患儿临床资料,均应用高通量测序技术检测CHI相关基因,应用polyphen2、SIFT、Mutation Taster软件预测其致病性.结果 共收集21例CHI息儿,平均出生体重3 748 g,52.4％(11/21)系大于胎龄儿,90.5％(19/21)生后3d内起病,33.3％ (7/21)出现抽搐.二氮嗪治疗有效6例,奥曲肽治疗有效8例,7例二氮嗪和奥曲肽治疗均无效.行18-氟-左旋多巴PET-CT扫描11例,8例提示局灶型胰岛细胞增生,3例提示弥漫型胰岛细胞增生.8例局灶增生型患儿(包括7例药物治疗无效、1例奥曲肽治疗有效但出现明显肝损害患儿)接受胰腺部分切除术,术后病理均证实局灶型胰岛细胞增生,7例术后血糖正常,1例发展为胰岛素依赖型糖尿病;3例弥漫型患儿奥曲肽治疗有效,均未手术治疗.检测到致病/可疑致病突变13例(61.9％),包括ABCC8基因12例,KCNJ11基因1例;共发现15个突变位点,包括ABCC8基因位点14个,KCNJ11基因突变位点1个;发现3个新的ABCC8基因突变位点(exon13:c.1822C＞T,p.Q608X;exon22:c.2691delC,p.W898Gfs*5;exon33:c.4039C＞T,p.Q1347X),突变类型包括2个无义突变,1个移码突变;发现1个未见报道的KCNJ11基因错义突变(exon1:c.629T＞A,p.H315Y).结论 胰腺部分切除术治疗局灶型胰岛细胞增生病变效果良好,但有发生糖尿病的风险.ABCC8基因和KCNJJ11基因突变是CHI的主要致病基因,不同基因突变类型对药物治疗反应不同.发现3个国内外尚未见报道的ABCC8基因突变,1个国内外尚未见报道的KCNJ11突变,丰富了基因突变谱.“,”Objective To study the clinical and genetic characteristics of congenital hyperinsulinism (CHI).Method From November 2016 to November 2018,a cohort of 21 patients with CHI were retrospectively reviewed in our hospital.The second generation sequencing was performed on Ion torrent platform to identify the genetic etiology of this disease.Result The average birth weight was 3 748 g.Overall,11 of the 21 patients (52.4％) were large for gestational age (＞ Pg0),and 90.5％ (19/21) onset within 3 days after birth.Seizures occurred in 7 cases (33.3％).Diazine was effective in alleviation in 6 patients,octreotide was effective in 8 patients,and diazine and octreotide were ineffective in 7 patients.11 patients underwent 18-fluoro-l-dopa PET-CT scan,indicating focal islet cell proliferation in 8 patients and diffuse islet cell proliferation in 3 patients.8 focal cases accepted the partial pancreatectomy (7 cases who failed to respond to drug therapy,1 case who received octreotide had significant liver damage),and all of these 8 cases were confirmed with focal islet cell proliferation by postoperative pathology.7 cases had normal glucose level after surgery,while 1 case developed insulin-dependent diabetes.Patients of 3 cases with diffuse islet cell proliferation had no consent for surgery.Gene mutations were identified in 61.9％ (13/21) of patients (12 cases of ABCC8 gene and 1 case of KCNJ11 gene).15 sequence changes were identified (14 in ABCC8 and 1 in KCNJ11).3 new ABCC8 gene mutations (exon13:c.1822C ＞ T,p.Q608X;exon22:c.2691delC,p.W898Gfs*5;exon33:c.4039C ＞T,p.Q1347X),and 1 new KCNJJ11 gene mutation (exon1:c.629T ＞ A,p.H315Y) were firstly reported.Conclusion Partial pancreatectomy is an effective treatment for those CHI not responsive to drug,however,with an attendant risk of developing diabetes.Mutations of ABCC8 gene and KCNJJ11 gene are the main pathogenic genes of CHI.Patients with different gene mutations may have different responses to drug treatment.Therefore,it is necessary to improve gene testing in clinical practice to guide treatment and prognosis.3 new ABCC8 gene mutations and 1 new KCNJJ11 gene mutation were first reported,which expand the spectra of gene mutation.