Zhang Yanan, Pi Yalei, Yan Xue, Li Yuqian, Qi Zhanjiang, Zhang Huifeng
Second Hospital, Hebei Medical University, Shijiazhuang, Hebei 050000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):502-506. doi: 10.3760/cma.j.issn.1003-9406.2018.04.009.
To analyze clinical characteristics, genetic mutation and therapeutic effect of seven patients diagnosed with congenital hyperinsulinism(CHI).
Clinical data for the patients was retrospectively analyzed.
All patients presented with hyperinsulinism(serum insulin:2.0-58.4 mU/L),even after hypoglycemia (blood glucose: 0.7-2.39 mmol/L) has developed. Mutations were identified in 4 patients (57.1%), which included a heterozygous c.262C to T(p.R88C) mutation in exon 4 of the UCP2 gene, a heterozygous c.1495C to A(p.G499C) mutation in exon 12 of the GLUD1 gene, a heterozygous c.1493C to T(p.S498L) mutation in exon 1 of the GLUD1 gene, and a heterozygous c.4432G to A(p.G1478R) mutation in exon 37 of the ABCC8 gene. The patient carrying a maternally inherited ABCC8 mutation was treated with cornstarch and had his blood glucose kept normal. All other patients responded well to diazoxide.
A genetic diagnosis was attained for 51.7% of patients in this study. Mild CHI patients can have their blood glucose controlled by giving cornstarch. Diazoxide is safe and effective for most CHI patients.
分析7例先天性高胰岛素血症（CHI）患者的临床特征、基因突变及治疗效果。
对患者的临床资料进行回顾性分析。
所有患者即使在发生低血糖（血糖：0.7 - 2.39 mmol/L）后仍表现为高胰岛素血症（血清胰岛素：2.0 - 58.4 mU/L）。4例患者（57.1%）检测到基因突变，其中包括UCP2基因第4外显子杂合性c.262C突变为T（p.R88C）、GLUD1基因第12外显子杂合性c.1495C突变为A（p.G499C）、GLUD1基因第1外显子杂合性c.1493C突变为T（p.S498L）以及ABCC8基因第37外显子杂合性c.4432G突变为A（p.G1478R）。携带母系遗传ABCC8基因突变的患者接受玉米淀粉治疗，血糖维持正常。其他所有患者对二氮嗪反应良好。
本研究中51.7%的患者获得了基因诊断。轻度CHI患者可通过给予玉米淀粉控制血糖。二氮嗪对大多数CHI患者安全有效。
