Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2016, Vol. 12 ›› Issue (01): 100 -103. doi: 10.3877/cma.j.issn.1673-5250.2016.01.019

Special Issue:

Review

Diagnostic and treatment progress of neonatal congenital hyperinsulinism

Lin Yang1, Xiaoyan Yang1(), Jing Shi1, Ying Xiong1   

  1. 1. Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2015-11-16 Revised:2016-01-22 Published:2016-02-01
  • Corresponding author: Xiaoyan Yang
  • About author:
    Corresponding author: Yang Xiaoyan, Email:

Congenital hyperinsulinism (CHI) is a complex heterogeneous syndrome caused by gene mutations which lead to abnormal secretion of insulin from pancreatic β-cells. The clinical manifestations of neonatal CHI are not typical, and the brain damage is severe. Early recognition, diagnosis and reasonable management of neonatal CHI is very important, but difficult. In recent years, the research progresses of different aspects of CHI, such as molecular genetics, pathology, imaging technology, drug therapy and surgical treatment have been completely changed the clinical management of neonatal CHI. This article reviews recent research progress of the diagnosis and treatment of neonatal CHI.

1
Rahman SA, Nessa A, Hussain K.Molecular mechanisms of congenital hyperinsulinism[J].J Mol Endocrinol, 2015, 54(2):119-129.
2
Arnoux JB, Verkarre V, Saint-Martin C, et al.Congenital hyperinsulinism: current trends in diagnosis and therapy[J].Orphanet J Rare Dis, 2011, 6:63.
3
Üstün NU, Dilli D, Kundak AA, et al.A novel mutation in ABCC8 gene in a newborn with congenital hyperinsulinism——a case report[J].Fetal Pediatr Pathol, 2013, 32(6):412-417.
4
Arya VB, Mohammed Z, Blankenstein O, et al.Hyperinsulinaemic hypoglycaemia[J].Horm Metab Res, 2014, 46(3):157-170.
5
Petraitien I, Barauskas G, Gulbinas A, et al.Congenital hyperinsulinism[J].Medicina (Kaunas), 2014, 50(3):190-195.
6
Su C, Gong C, Sanger P, et al. Long-term follow-up and mutation analysis of 27 Chinese cases of congenital hyperinsulinism[J]. Horm Res Paediatr, 2014, 81(3):169-176.
7
Roženková K, Güemes M, Shah P, et al.The diagnosis and management of hyperinsulinaemic hypoglycaemia[J].J Clin Res Pediatr Endocrinol, 2015, 7(2):86-97.
8
Yorifuji T, Masue M, Nishibori H.Congenital hyperinsulinism:global and Japanese perspectives[J].Pediatr Int, 2014, 56(4):467-476.
9
James C, Kapoor RR, Ismail D, et al.The genetic basis of congenital hyperinsulinism[J].J Med Genet, 2009, 46(5):289-299.
10
Flanagan SE, Kapoor RR, Hussain K.Genetics of congenital hyperinsulinemic hypoglycemia[J].Semin Pediatr Surg, 2011, 20(1):13-17.
11
Barthlen W. Surgery in congenital hyperinsulinism-tips and tricks not only for surgeons. A practical guide[J].Semin Pediatr Surg, 2011, 20(1):56-59.
12
Arnoux JB, De Lonlay P, Ribeiro MJ, et al.Congenital hyperinsulinism[J].Early Hum Dev, 2010, 86(5):287-294.
13
Dillon PA.Congenital hyperinsulinism[J].Curr Opin Pediatr, 2013, 25(3):357-361.
14
Hussain K, Flanagan SE, Smith VV, et al.An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism[J].Diabetes, 2008, 57(1):259-263.
15
Shah P, Demirbilek H, Hussain K.Persistent hyperinsulinaemic hypoglycaemia in infancy[J].Semin Pediatr Surg, 2014, 23(2):76-82.
16
Yorifuji T.Congenital hyperinsulinism: current status and future perspectives[J].Ann Pediatr Endocrinol Metab, 2014, 19(2):57-68.
17
罗飞宏.先天性高胰岛素血症诊治进展[J].中华儿科杂志,2015,53(6):468-471.
18
Gopal-Kothandapani JS, Hussain K.Congenital hyperinsulinism: role of florine-18L-3, 4 hydroxyphenylalanine positron emission tomography scanning[J].World J Radiol, 2014, 6(6):252-260.
19
Hussain K, Blankenstein O, De Lonlay P, et al.Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management[J].Arch Dis Child, 2007, 92(2):568-570.
20
Arya VB, Senniappan S, Guemes M, et al.Neonatal hypoglycemia[J].Indian J Pediatr, 2014, 81(1):58-65.
21
Edwards TM, Spatz DL.Congenital hyperinsulinism: exclusive human milk and breastfeeding[J].Adv Neonatal Care, 2014, 14(4):262-266.
22
Palladino AA, Stanley CA.A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism[J].Semin Pediatr Surg, 2011, 20(1):32-37.
23
黄佳,陈超.新生儿先天性高胰岛素血症的治疗进展[J].中国实用儿科杂志,2015,30(2):116-120.
24
Yorifuji T, Kawakita R, Hosokawa Y, et al.Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism[J].Clin Endocrinol (Oxf), 2013, 78(6):891-897.
25
Laje P, Halaby L, Adzick NS, et al.Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism[J].Pediatr Diabetes, 2010, 11(2):142-147.
26
Durmaz E, Flanagan SE, Parlak M.A combination of nifedipine and octreotide treatment in a hyperinsulinemic hypoglycemic infant[J].J Clin Res Pediatr Endocrinol, 2014, 6(2):119-121.
27
Le Quan Sang KH, Arnoux JB, Mamoune A, et al.Successful treatment of congenital hyperinsulinism with long-acting release octreotide[J].Eur J Endocrinol, 2012, 166(2):333-339.
28
Senniappan S, Alexandrescu S, Tatevian N, et al.Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia[J].N Engl J Med, 2014, 370(12):1131-1137.
29
Calabria AC, Li C, Gallagher PR, et al.GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K channel[J].Diabetes, 2012, 61(10):2585-2591.
30
Martin GM, Chen PC, Devaraneni P, et al.Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels[J].Front Physiol, 2013, 4:386.
31
Yan FF, Casey J, Shyng SL.Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex[J].J Biol Chem, 2006, 281(44):33403-33413.
32
Chen PC, Olson EM, Zhou Q, et al.Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism[J]. J Biol Chem, 2013, 288(29):20942-20954.
[1] Shuihua Yang, Guidan He, Guican Qin, Mengfeng Liang, Yanhe Luo, Xueqin Li, Juansong Tang. Echocardioimagedata characteristics of fetal isolated total anomalous pulmonary venous connection and application of high definition flow imaging and spatio-temporal image correlation[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(10): 1061-1067.
[2] Heng Lyu, Licong Dong, Haiqin Xie, Zhuofei Zhao, Li Liu, Desheng Sun. CT-ultrasound comparison for evaluating missed diagnosis of focal liver lesions by ultrasound: a single-center cross-sectional quality control survey[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(07): 712-716.
[3] Peijie Li, Yongjie Qiao, Haoqiang Zhang, Jiankang Zeng, Fei Tan, Jiahuan Li, Jing Wang, Shenghu Zhou. Progress in diagnosis and treatment of periprosthetic infection with negative bacterial culture[J]. Chinese Journal of Joint Surgery(Electronic Edition), 2023, 17(06): 827-833.
[4] Yi He, Dongsheng Yu. Advances in diagnosis and treatment of dislocation injury of young permanent teeth[J]. Chinese Journal of Stomatological Research(Electronic Edition), 2023, 17(06): 400-406.
[5] Xu Peng, Yongfu Shao, Duo Li, Rui Zhou, Zhenming Xing. Diagnosis and surgical treatment of hepatocolon flexure[J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2024, 18(01): 108-110.
[6] Zhiming Li, Chenming Guo, Xiaochen Zhuang, Xueqin Hou, Junxi Gao. Comparative study of qualitative and quantitative indicators of contrast-enhanced ultrasound in early breast cancer[J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2023, 17(06): 639-643.
[7] Xue Yang, Wei Zhang, Peizhong Shang, Chuangye Song, Dandan Shang, Wei Zhang. Cholecystoduodenal fistula with stone draining through it and spontaneously healing:a case report[J]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2023, 17(06): 707-708.
[8] Ming Jiang, Rui Luo, Chengchao Long. Diagnosis and treatment of obturator hernia: An experience of 73 cases over 10 years[J]. Chinese Journal of Hernia and Abdominal Wall Surgery(Electronic Edition), 2023, 17(06): 706-710.
[9] Dingwei Xu, Jiangyun Ma, Xincheng Li, Jie Huang. Alagille syndrome misdiagnosed as congenital biliary atresia: a case report and literature review[J]. Chinese Journal of Hepatic Surgery(Electronic Edition), 2023, 12(06): 681-687.
[10] Ruiqi Gu, Hongsheng Fang, Guoxiang Cai. Application and progress of circulating tumor DNA detection technology in the diagnosis and treatment of colorectal cancer[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2023, 12(06): 453-459.
[11] Bing Lan, Huaiming Wang, Hui Wang, Bo Ma. Research progress on locally advanced colon cancer with bladder invasion[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2023, 12(06): 505-511.
[12] Hongjie Yang, Zhichun Zhang, Yi Sun. Study progress in the diagnosis of lymph node metastasis of rectal cancer[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2023, 12(06): 512-518.
[13] Lili Zhao, Kuixiang Wang, Xiaochong Zhang, Zhiyuan Li. Diagnostic value of ESR to C-Reactive protein ratio in diagnosis of periprosthetic joint Infection[J]. Chinese Journal of Geriatric Orthopaedics and Rehabilitation(Electronic Edition), 2023, 09(06): 351-355.
[14] Xinxin Sun, Jun Liu, Chaowu Chen, Chao Sun. Application of endoscopic ultrasonography-guided fine needle aspiration in pancreatic space-occupying lesions[J]. Chinese Journal of Digestion and Medical Imageology(Electronic Edition), 2023, 13(06): 418-421.
[15] Tian Li, Hong Xu, Heliang Liu. Progress in research of pneumoconiosis[J]. Chinese Journal of Clinicians(Electronic Edition), 2023, 17(08): 900-905.
Viewed
Full text


Abstract