Bibliography
- Stanley CA, Baker L. Hyperinsulinism in infants and children: Diagnosis and therapy. Adv Pediatr 1976;23:315-55
- Aynsley-Green A. Glucose, the brain and the paediatric endocrinologist. Horm Res 1996;46:8-25
- Ludwig A, Ziegenhorn K, Empting S, et al. Glucose metabolism and neurological outcome in congenital hyperinsulinism. Semin Pediatr Surg 2011;20(1):45-9
- Dunne MJ, Cosgrove KE, Shepherd RM, et al. Hyperinsulinism in infancy: From basic science to clinical disease. Physiol Rev 2004;84(1):239-75
- Aynsley-Green A, Hussain K, Hall J, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed 2000;82(2):F98-F107
- Meissner T, Wendel U, Burgard P, et al. Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol 2003;149(1):43-51
- Stanley CA, Baker L. Hyperinsulinism in infancy: Diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics 1976;57(5):702-11
- Al-Otaibi H, Senniappan S, Alam et al. Biochemical studies in patients with hyperinsulinaemic hypoglycaemia. Eur J Pediatr 2013;172(11):1435-40
- Otonkoski T, Ammälä C, Huopio H, et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in finland. Diabetes 1999;48(2):408-15
- Bruining GJ. Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Curr Opin Pediatr 1990;2(4):758-65
- Hussain K. Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy. Horm Res Paediatr 2008;69(1):2-13
- Ismail D, Smith VV, de Lonlay P, et al. Familial focal congenital hyperinsulinism. J Clin Endocrinol Metab 2011;96(1):24-8
- Arnoux J-B, Verkarre V, Saint-Martin C, et al. Congenital hyperinsulinism: Current trends in diagnosis and therapy. Orphanet J Rare Dis 2011;6(1):63
- Glaser B, Thornton P, Otonkoski T, Junien C. Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed 2000;82(2):F79-86
- Saint-Martin C, Arnoux J-B, de Lonlay P, Bellanné-Chantelot C. Katp channel mutations in congenital hyperinsulinism. Semin Pediatr Surg 2011;20(1):18-22
- Kapoor RR, Flanagan SE, Arya VB, et al. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol 2013;168(4):557-64
- Flanagan SE, Kapoor RR, Mali G, et al. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by hnf4a gene mutations. Eur J Endocrinol 2010;162(5):987-92
- Nestorowicz A, Wilson BA, Schoor KP, et al. Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in ashkenazi jews. Hum Mol Genet 1996;5(11):1813-22
- Inagaki N, Gonoi T, Clement JP, et al. Reconstitution of ikatp: An inward rectifier subunit plus the sulfonylurea receptor. Science 1995;270(5239):1166-70
- Nichols CG, Shyng S-L, Nestorowicz A, et al. Adenosine diphosphate as an intracellular regulator of insulin secretion. Science. 1996;272(5269):1785-7
- Kane C, Shepherd RM, Squires PE, et al. Loss of functional katp channels in pancreatic beta−cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat Med 1996;2:1344-7
- Zerangue N, Schwappach B, Jan YN, Jan LY. A new er trafficking signal regulates the subunit stoichiometry of plasma membrane katp channels. Neuron 1999;22(3):537-48
- Pratt EB, Tewson P, Bruederle CE, et al. N-terminal transmembrane domain of sur1 controls gating of kir6.2 by modulating channel sensitivity to pip2. J General Physiol 2011;137(3):299-314
- Mertz RJ, Worley JF, Spencer B, et al. Activation of stimulus-secretion coupling in pancreatic -cells by specific products of glucose metabolism: Evidence for privileged signaling by glycolysis. J Biol Chem 1996;271(9):4838-45
- Ashcroft FM, Rorsman P. Katp channels and islet hormone secretion. New insights and controversies. Nat Rev Endocrinol 2013;9(11):660-9
- Helton TD, Xu W, Lipscombe D. Neuronal l-type calcium channels open quickly and are inhibited slowly. J Neurosci 2005;25(44):10247-51
- Snider KE, Becker S, Boyajian L, et al. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab 2013;98(2):E355-63
- Stanley CA, Lieu YK, Hsu BYL, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Eng J Med 1998;338(19):1352-7
- Senniappan S, Arya VB, Hussain K. The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian J Endocrinol Metab 2013;17(1):19-30
- Glaser B, Kesavan P, Heyman M, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Eng J Med 1998;338(4):226-30
- Henquin J-C, Sempoux C, Marchandise J, et al. Congenital hyperinsulinism caused by hexokinase i expression or glucokinase-activating mutation in a subset of β-cells. Diabetes 2013;62(5):1689-96
- Clayton PT, Eaton S, Aynsley-Green A, et al. Hyperinsulinism in short-chain l-3-hydroxyacyl-coa dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion. J Clin Invest 2001;108(3):457-65
- Gupta RK, Vatamaniuk MZ, Lee CS, et al. The mody1 gene hnf-4α regulates selected genes involved in insulin secretion. J Clin Invest 2005;115(4):1006-15
- Stanescu DE, Hughes N, Kaplan B, et al. Novel presentations of congenital hyperinsulinism due to mutations in the mody genes: Hnf1a and hnf4a. J Clin Endocrinol Metab 2012;97(10):E2026-30
- Maestro MA, Cardalda C, Boj SF, et al. Distinct roles of hnf1beta, hnf1alpha, and hnf4alpha in regulating pancreas development, beta-cell function and growth. Endocr Dev 2007;12:33-45
- Dusatkova P, Pruhova S, Sumnik Z, et al. Hnf1a mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes. J Pediatr Endocrinol Metabol 2011;24(3-4):187-9
- Pontoglio M, Sreenan S, Roe M, et al. Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. J Clin Invest 1998;101(10):2215-22
- Thomas H, Jaschkowitz K, Bulman M, et al. A distant upstream promoter of the hnf-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet 2001;10(19):2089-97
- Kuo CJ, Conley PB, Chen L, et al. A transcriptional hierarchy involved in mammalian cell-type specification. Nature 1992;355(6359):457-61
- Otonkoski T, Jiao H, Kaminen-Ahola N, et al. Physical exercise–induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic β cells. Am J Hum Genet 2007;81(3):467-74
- González-Barroso MM, Giurgea I, Bouillaud F, et al. Mutations in ucp2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One 2008;3(12):e3850
- Chan O, Sherwin R. Influence of vmh fuel sensing on hypoglycemic responses. Trends Endocrinol Metabol 2013;24(12):616-24
- Larsson O, Ammälä C, Bokvist K, et al. Stimulation of the katp channel by adp and diazoxide requires nucleotide hydrolysis in mouse pancreatic beta-cells. J Physiol 1993;463(1):349-65
- Ashcroft FM. Atp-sensitive potassium channelopathies: Focus on insulin secretion. J Clin Invest 2005;115(8):2047-58
- Dougherty PP, Klein-Schwartz W. Octreotide’s role in the management of sulfonylurea-induced hypoglycemia. J Med Toxicol 2010;6(2):199-206
- Hussain K, Aynsley-Green A, Stanley CA. Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy hi). Pediatr Endocrinol Rev 2004;2(Suppl 1):163-7
- Pruitt AW, Dayton PG, Patterson JH. Disposition of diazoxide in children. Clin Pharmacol Ther 1973;14(1):73-82
- Aynsley-Green A, Alberti KG. Diuretics and carbohydrate metabolism: The effects of furosemide and amiloride on blood glucose, plasma insulin and cations in the rat. Diabetologia 1973;9(1):34-42
- Petro DJ, Vannucci RC, Kulin HE. Letter: Diazoxide-diphenylhydantoin interaction. J Pediatr 1976;89(2):331-2
- Sellers EM, Koch-Weser J. Displacement of warfarin from human albumin by diazoxide and ethacrynic, mefenamic, and nalidixic acids. Clin Pharmacol Ther 1970;11(4):524-9
- Aynsley-Green A, Illig R. Letter: Enhancement by chlorpromazine of hyperglycaemic action of diazoxide. Lancet 1975;2(7936):658-9
- Newman WP, Brodows RG. Aspirin causes tissue insensitivity to insulin in normal man. J Clin Endocrinol Metab 1983;57(6):1102-6
- Henquin JC. Pathways in beta-cell stimulus-secretion coupling as targets for therapeutic insulin secretagogues. Diabetes 2004;53(suppl 3):S48-58
- Bas F, Darendeliler F, Demirkol D, et al. Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy. J Pediatr Endocrinol Metabol 1999;12(6):873-8
- Hussain K. Congenital hyperinsulinism. Semin Fetal Neonatal Med 2005;10(4):369-76
- de Lonlay-Debeney P, Poggi-Travert F, Fournet JC, et al. Clinical features of 52 neonates with hyperinsulinism. N Eng J Med 1999;340(15):1169-75
- Exton JH. Mechanisms of hormonal regulation of hepatic glucose metabolism. Dia Metabol Rev 1987;3(1):163-83
- Hussain K, Bryan J, Christesen HT, et al. Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism. Diabetes 2005;54(10):2946-51
- Mohnike K, Blankenstein O, Pfuetzner A, et al. Long-term non-surgical therapy of severe persistent congenital hyperinsulinism with glucagon. Horm Res 2008;70(1):59-64
- White CM. A review of potential cardiovascular uses of intravenous glucagon administration. J Clin Pharmacol 1999;39(5):442-7
- Mehta A, Hussain K. Transient hyperinsulinism associated with macrosomia, hypertrophic obstructive cardiomyopathy, hepatomegaly, and nephromegaly. Arch Dis Childhood 2003;88(9):822-4
- Riordan JR. The cystic fibrosis transmembrane conductance regulator. Ann Rev Physiol 1993;55(1):609-30
- Powers ET, Morimoto RI, Dillin A, et al. Biological and chemical approaches to diseases of proteostasis deficiency. Ann Rev Biochem 2009;78(1):959-91
- Pedemonte N, Lukacs GL, Du K, et al. Small-molecule correctors of defective δf508-cftr cellular processing identified by high-throughput screening. J Clin Invest 2005;115(9):2564-71
- Chen P-C, 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 Bio Chem 2013;288(29):20942-54
- Lamont BJ, Li Y, Kwan E, et al. Pancreatic glp-1 receptor activation is sufficient for incretin control of glucose metabolism in mice. J Clin Invest 2012;122(1):388-402
- McClenaghan NH, Flatt PR, Ball AJ. Actions of glucagon-like peptide-1 on katp channel-dependent and -independent effects of glucose, sulphonylureas and nateglinide. J Endocrinol 2006;190(3):889-96
- Drucker DJ. Dipeptidyl peptidase-4 inhibition and the treatment of type 2 diabetes. Diabetes Care 2007;30(6):1335-43
- Baggio LL, Drucker DJ. Biology of incretins: Glp-1 and gip. Gastroenterology 2007;132(6):2131-57
- Service GJ, Thompson GB, Service FJ, et al. Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. N Eng J Med 2005;353(3):249-54
- De Leon DD, Li C, Delson MI, et al. Exendin-(9-39) corrects fasting hypoglycemia in sur-1-/- mice by lowering camp in pancreatic beta-cells and inhibiting insulin secretion. J Biol Chem 2008;283(38):25786-93
- 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. Diabetes 2012;61(10):2585-91
- Kapoor RR, Flanagan SE, James C, et al. Hyperinsulinaemic hypoglycaemia. Arch Dis Childhood 2009;94(6):450-7
- Modan-Moses D, Koren I, Mazor-Aronovitch K, et al. Treatment of congenital hyperinsulinism with lanreotide acetate somatuline autogel). J Clin Endocrinol Metabol 2011;96(8):2312-17
- Le Quan Sang K-H, Arnoux J-B, Mamoune A, et al. Successful treatment of congenital hyperinsulinism with long-acting release octreotide. Eur J Endocrinol 2012;166(2):333-9
- Kühnen P, Marquard J, Ernert A, et al. Long-term lanreotide treatment in six patients with congenital hyperinsulinism. Horm Res Paediatr 2012;78(2):106-12
- Mao ZG, Zhu YH, Tang HL, et al. Preoperative lanreotide treatment in acromegalic patients with macroadenomas increases short-term postoperative cure rates: A prospective, randomised trial. Eur J Endocrinol 2010;162(4):661-6
- Kulke MH, Bergsland EK, Yao JC. Glycemic control in patients with insulinoma treated with everolimus. N Eng J Med 2009;360(2):195-7
- Yao JC, Lombard-Bohas C, Baudin E, et al. Daily oral everolimus activity in patients with metastatic pancreatic neuroendocrine tumors after failure of cytotoxic chemotherapy. A phase ii trial. J Clin Oncol 2010;28(1):69-76
- Bourcier ME, Sherrod A, DiGuardo M, Vinik AI. Successful control of intractable hypoglycemia using rapamycin in an 86-year-old man with a pancreatic insulin-secreting islet cell tumor and metastases. J Clin Endocrinol Metabol 2009;94(9):3157-62
- Alexandrescu S, Tatevian N, Olutoye O, Brown RE. Persistent hyperinsulinemic hypoglycemia of infancy. Constitutive activation of the mtor pathway with associated exocrine-islet transdifferentiation and therapeutic implications. Int J Clin Exp Pathol 2010;3(7):691-705
- Düvel K, Yecies JL, Menon S, et al. Activation of a metabolic gene regulatory network downstream of mtor complex 1. Mol Cell 2010;39(2):171-83
- Senniappan S, Alexandrescu S, Tatevian N, et al. Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Eng J Med 2014;370(12):1131-7
- Kapoor RR, Flanagan SE, Arya VB, et al. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol 2013;168(4):557-64
- Glaser B, Kesavan P, Heyman M, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Eng J Med 1998;338(4):226-30
- Otonkoski T, Kaminen N, Ustinov J, et al. Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes 2003;52(1):199-204
- Gonzalez-Barroso MM, Giurgea I, Bouillaud F, et al. Mutations in ucp2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One 2008;3(12):9