
婴儿持续性高胰岛素血症性低血糖症12例临床分析
吴爱文, 刘丽, 李秀珍, 程静, 周志红, 张文
中国当代儿科杂志 ›› 2009, Vol. 11 ›› Issue (10) : 809-812.
婴儿持续性高胰岛素血症性低血糖症12例临床分析
Persistent hyperinsulinemic hypoglycemia of infancy: clinical analysis of 12 cases
目的:探讨婴儿持续性高胰岛素血症性低血糖症(PHHI)的早期诊断和治疗问题。方法:回顾性分析12例PHHI患儿的临床资料。结果:12例患儿临床表现除抽搐外,尚有发绀、嗜睡、拒奶、易激惹、出冷汗等,实验室检查有持续性低血糖和高胰岛素血症,胰高血糖素试验阳性,尿酮阴性。7例给予二氮嗪治疗(每天5~15 mg/kg),4例治疗有效。1例行胰腺次全切除术,术后血糖正常。6例随访有精神运动发育迟缓等后遗症,3例失访,3例正在随访中。结论:PHHI可通过血糖监测、血胰岛素和尿酮检查做出早期诊断,部分患儿二氮嗪治疗有效。[中国当代儿科杂志,2009,11(10):809-812]
OBJECTIVE: To study the diagnosis and treatment of persistent hyperinsulinemic hypoglycemia of infancy. METHODS: The clinical data of 12 infants with persistent hyperinsulinemic hypoglycemia were retrospectively reviewed. RESULTS: Convulsion, cyanosis, lethargy, refusing milk sucking, irritability and sweating were common symptoms. The laboratory findings displayed persistent hypoglycemia and hyperinsulinism in all of the 12 infants. The glucagon test showed positive and no urine ketones were detected in all of the 12 infants. Seven infants were treated with oral diazoxide (5-15 mg/kg daily) and 4 infants showed effective to the therapy. One patient was given subtotal pancreatectomy and the blood glucose level was restored to normal after operation. Of the 12 infants, 6 presented psychomotor retardation in a follow-up of 2 months to 67 months, 3 had loss to follow-up and 3 were still in a follow-up. CONCLUSIONS: The measurement of blood glucose, blood insulin and urinary ketons is helpful in the diagnosis of persistent hyperinsulinemic hypoglycemia of infancy. Diazoxide therapy is effective in some of patients.[Chin J Contemp Pediatr, 2009, 11 (10):809-812]
Hyperinsulinism / Hypoglycemia / Diagnosis / Treatment / Infant
[1]Aynsley-Green A, Polak JM, Bloom SR, Gough MH, Keeling J, Ashcroft SJ, et al. Nesidioblastosis of the pancreas:definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia[J]. Arch Dis Child, 1981, 56(7):496-508.
[2]李文益,陈述枚.儿科新理论和新技术[M]. 北京:人民卫生出版社,2002,497.
[3]曾畿生,王德芬.现代儿科内分泌学—基础与临床[M].上海:上海科学技术文献出社, 2001, 338.
[4]胡亚美,江载芳. 诸福棠实用儿科学[M].第7版.北京:人民卫生出版社, 2002, 2051.
[5]蔡梦茵,翁建平.婴幼儿持续高胰岛素血症性低血糖症的分子病因[J].中华内分泌代谢杂志, 2006, 22(4):401-404.
[6]Sperling MA, Menon RK. Hyperinsulinemic hypoglycemia of infancy:recent insights into ATP sensitive potassium channels, sulfonylurea receptors, molecular mechanisms, and treatments[J]. Endocrinol Metab Clin North Am, 1999, 28(4):695-697.
[7]Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, et al. Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy[J].Diabet Med, 2007, 24(12):1393-1399.
[8]Shah JH, Maguire DJ, Brown D, Cotterill A. The role of ATP sensitive channels in insulin secretion and the implications in persistent hyperinsulinemic hypoglycaemia of infancy (PHHI)[J]. Adv Exp Med Biol, 2007, 599:133-138.
[9]翁建平. 非胰岛β细胞瘤高胰岛素血症性低血糖的新观点[J].中华内分泌代谢杂志, 2006, 22(4):313-314.
[10]Ohkubo K, Nagashima M, Naito Y, Taguchi T, Suita S, Okamoto N, et al. Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy[J]. Clin Endocrinol, 2005, 62(4):458-465.
[11]Shama N, Crane A, Gonzalez G, Bryan J, Aguilar-Bryan L. Familial hyperinsulinemia and pancreatic beta-cell ATP-sensitive potassium channels[J]. Kidney Int, 2000, 57(3): 803-808.
[12]Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations[J]. J Clin Invest, 2008, 118(8):2877-2886.
[13]Han HS, Yang SW, Moon HR, Gi JG. A study on nesidioblastosis in hyperinsulinaemic hypoglycaemia[J]. Korean Med Sci, 1990, 5(3):155-163.
[14]徐潮,宋怀东. 婴儿持续性高胰岛素性低血糖分子机制研究[J].国际遗传学杂志, 2006, 29(3):208-211.
[15]Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ. Hyperinsulinism in infancy: from basic science to clinical disease[J]. Physiol Rev, 2004, 84(1):239-275.
[16]Richard EB, Robert MK, Hal BJ, Bonita FS. Nelson Textbook of Pediatrics[M]. 18th ed. Philadelphia: W.B.Saunders Co, 2007, 659.
[17]Ismail D, Werther G. Persistent hyperinsulinaemic hypoglycaemia of infancy: 15 years′ experience at the Royal Children′s Hospital (RCH),Melbourne[J]. Pediatr Endocrinol Metab, 2005, 18(11):1103-1109.
[18]Hansen JB. Towards selective Kir6.2/SUR1 potassium channel openers, medicinal chemistry and therapeutic perspectives[J]. Curr Med Chem, 2006, 13(4):361-376.
[19]Ferraz DP, Almeida MA, Mello BF. Octreotide therapy for persistent hyperinsulinemic hypoglycemia of infancy[J]. Arq Bras Endocrinol Metabol, 2005, 49(3):460-467.
[20]Thornton PS, Alter CA, Katz LE, Baker L, Stanley CA. Shortand longterm use ofoctreotide in the treatment of congenital hyperinsulinism[J]. J Pediatr, 1993, 123(4):637-643.
[21]Cherian MP, Abduljabbar MA. Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Longterm outcome following 95% pancreatectomy[J]. Pediatr Endocrinol Metab, 2005, 18(12):1441-1448.
[22]Al-Nassar S, Sakati N, Al-Ashwal A, Bin-Abbas B. Persistent hyperinsulinaemic hypoglycaemia of infancy in 43 children:long-term clinical and surgical follow-up[J]. Asian Surg, 2006, 29(3):207-218.
[23]Al-Shanafey S, Habib Z, AlNassar S. Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy[J]. Pediatr Surg, 2009, 44(1):134-138.