Persistent hyperinsulinaemic hypoglycaemia in infancy

Seminars in Pediatric Surgery

Volumn 23, Issue 2, 2014, Pages 76-82

  Shah, Pratik ^a,b   Demirbilek, Huseyin ^a,b   Hussain, Khalid ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Diffuse; Focal; Hyperinsulinaemic hypoglycaemia

Indexed keywords

ANGIOPEPTIN; CHLOROTHIAZIDE; DIAZOXIDE; GLUCAGON; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; LEVODOPA; MONOCARBOXYLATE TRANSPORTER 1; NIFEDIPINE; OCTREOTIDE; UNCOUPLING PROTEIN 2; HYPERGLYCEMIC AGENT;

ABCC8 GENE; ARTICLE; DIABETES MELLITUS; GCK GENE; GENE; GENE MUTATION; GLUD1 GENE; HADH GENE; HUMAN; INSULIN RELEASE; PANCREAS EXOCRINE INSUFFICIENCY; PANCREAS RESECTION; PATHOPHYSIOLOGY; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; TREATMENT RESPONSE; ADJUVANT CHEMOTHERAPY; CONGENITAL HYPERINSULINISM; INFANT; NEWBORN; PROCEDURES;

CHEMOTHERAPY, ADJUVANT; CONGENITAL HYPERINSULINISM; HUMANS; INFANT; INFANT, NEWBORN; INSULIN ANTAGONISTS; PANCREATECTOMY;

EID: 84902165789     PISSN: 10558586     EISSN: 15329453     Source Type: Journal    
DOI: 10.1053/j.sempedsurg.2014.03.005     Document Type: Article

References (78)

1. 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.
2. Hussain K., Aynsley-Green A. Hyperinsulinism in infancy: understanding the pathophysiology. Int J Biochem Cell Biol 2003, 35(9):1312-1317.
3. Arya V.B., Flanagan S.E., Kumaran A., et al. Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Arch Dis Child Fetal Neonatal Ed 2013, 98(4):F356-F358.
4. Kapoor R.R., Flanagan S.E., Arya V.B., Shield J.P., Ellard S., Hussain K. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol 2013, 168(4):557-564.
5. Pierro A., Nah S.A. Surgical management of congenital hyperinsulinism of infancy. Semin Pediatr Surg 2011, 20(1):50-53.
6. Kapoor R.R., Flanagan S.E., James C., Shield J., Ellard S., Hussain K. Hyperinsulinaemic hypoglycaemia. Arch Dis Child 2009, 94(6):450-457.
7. Hussain K., Aynsley-Green A. Management of hyperinsulinism in infancy and childhood. Ann Med 2000, 32(8):544-551.
8. James C., Kapoor R.R., Ismail D., Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet 2009, 46(5):289-299.
9. Meintjes M., Endozo R., Dickson J., et al. 18F-DOPA PET and enhanced CT imaging for congenital hyperinsulinism: initial UK experience from a technologist's perspective. Nucl Med Commun 2013, 34(6):601-608.
10. Ismail D., Hussain K. Role of 18F-DOPA PET/CT imaging in congenital hyperinsulinism. Rev Endocr Metab Disord 2010, 11(3):165-169.
11. Kapoor R.R., Heslegrave A., Hussain K. Congenital hyperinsulinism due to mutations in HNF4A and HADH. Rev Endocr Metab Disord 2010, 11(3):185-191.
12. Flanagan S.E., Kapoor R.R., Hussain K. Genetics of congenital hyperinsulinemic hypoglycemia. Semin Pediatr Surg 2011, 20(1):13-17.
13. Glaser B. Lessons in human biology from a monogenic pancreatic β cell disease. J Clin Invest 2011, 121(10):3821-3825.
14. Kapoor R.R., James C., Hussain K. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nat Clin Pract Endocrinol Metab 2009, 5(2):101-112.
15. Senniappan S., Shanti B., James C., Hussain K. Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. J Inherit Metab Dis 2012, 35(4):589-601.
16. Beltrand J., Caquard M., Arnoux J.B., et al. Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care 2012, 35(2):198-203.
17. Hussain K., Blankenstein O., De Lonlay P., Christesen H.T. Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management. Arch Dis Child 2007, 92(7):568-570.
18. Bennett K., James C., Hussain K. Pancreatic β-cell KATP channels: hypoglycaemia and hyperglycaemia. Rev Endocr Metab Disord 2010, 11(3):157-163.
19. Mohamed Z., Arya V.B., Hussain K. Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol 2012, 4(4):169-181.
20. Huopio H., Reimann F., Ashfield R., et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000, 106(7):897-906.
21. Pinney S.E., MacMullen C., Becker S., et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest 2008, 118(8):2877-2886.
22. Stanley C.A., Lieu Y.K., Hsu B.Y., et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998, 338(19):1352-1357.
23. Glaser B., Kesavan P., Heyman M., et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998, 338(4):226-230.
24. Faletra F., Athanasakis E., Morgan A., et al. Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort. Gene 2013, 521(1):160-165.
25. Clayton P.T., Eaton S., Aynsley-Green A., et al. Hyperinsulinism in short-chain l-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 2001, 108(3):457-465.
26. Pearson E.R., Boj S.F., Steele A.M., et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 2007, 4(4):e118.
27. Hussain K. Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy. Horm Res 2008, 69(1):2-13.
28. Neylon O.M., Moran M.M., Pellicano A., Nightingale M., O'Connell M.A. Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism. J Pediatr Endocrinol Metab 2013, 26(11-12):1157-1161.
29. Avatapalle H.B., Banerjee I., Shah S., et al. Abnormal neurodevelopmental outcomes are common in children with transient congenital hyperinsulinism. Front Endocrinol (Lausanne) 2013, 4:60. (1-6).
30. Levy-Shraga Y., Pinhas-Hamiel O., Kraus-Houminer E., et al. Cognitive and developmental outcome of conservatively treated children with congenital hyperinsulinism. J Pediatr Endocrinol Metab 2013, 26(3-4):301-308.
31. Arnoux J.B., Verkarre V., Saint-Martin C., et al. Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis 2011, 6:63-70.
32. Moens K., Berger V., Ahn J.M., et al. Assessment of the role of interstitial glucagon in the acute glucose secretory responsiveness of in situ pancreatic beta-cells. Diabetes 2002, 51(3):669-675.
33. Goldfine A.B., Mun E.C., Devine E., et al. Patients with neuroglycopenia after gastric bypass surgery have exaggerated incretin and insulin secretory responses to a mixed meal. J Clin Endocrinol Metab 2007, 92(12):4678-4685.
34. Hu S., Xu Z., Yan J., et al. The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism. J Pediatr Endocrinol Metab 2012, 25(11-12):1119-1122.
35. Macmullen C.M., Zhou Q., Snider K.E., et al. Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1. Diabetes 2011, 60(6):1797-1804.
36. Lord K., Dzata E., Snider K.E., Gallagher P.R., De León D.D. Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases. J Clin Endocrinol Metab 2013, 98(11):E1786-E1789.
37. Yildizdas D., Erdem S., Küçükosmanoglu O., Yilmaz M., Yüksel B. Pulmonary hypertension, heart failure and neutropenia due to diazoxide therapy. Adv Ther 2008, 25(5):515-519.
38. Ponmani C., Gannon H., Hussain K., Senniappan S. Paradoxical hypoglycaemia associated with diazoxide therapy for hyperinsulinaemic hypoglycaemia. Horm Res Paediatr 2013, 80(2):129-133.
39. Ozon A., Demirbilek H., Ertugrul A., Unal S., Gumruk F., Kandemir N. Anemia and neutropenic fever with high dose diazoxide treatment in a case with hyperinsulinism due to Munchausen by proxy. J Pediatr Endocrinol Metab 2010, 23(7):719-723.
40. Baş F., Darendeliler F., Demirkol D., Bundak R., Saka N., Günöz H. Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy. J Pediatr Endocrinol Metab 1999, 12(6):873-878.
41. Lindley K.J., Dunne M.J., Kane C., et al. Ionic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade. Arch Dis Child 1996, 74(5):373-378.
42. Suprasongsin C., Suthutvoravut U., Mahachoklertwattana P., Preeyasombat C. Combined raw cornstarch and nifedipine as an additional treatment in persistent hyperinsulinemic hypoglycemia of infancy. J Med Assoc Thai 1999, 82(suppl 1):S39-S42.
43. Shanbag P., Pathak A., Vaidya M., Shahid S.K. Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine. Indian J Pediatr 2002, 69(3):271-272.
44. Darendeliler F., Fournet J.C., Baş F., et al. ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. J Pediatr Endocrinol Metab 2002, 15(7):993-1000.
45. Müller D., Zimmering M., Roehr C.C. Should nifedipine be used to counter low blood sugar levels in children with persistent hyperinsulinaemic hypoglycaemia?. Arch Dis Child 2004, 89(1):83-85.
46. Eichmann D., Hufnagel M., Quick P., Santer R. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine. Eur J Pediatr 1999, 158(3):204-206.
47. Doyle M.E., Egan JM. Pharmacological agents that directly modulate insulin secretion. Pharmacol Rev 2003, 55(1):105-131.
48. Kühnen P., Marquard J., Ernert A., et al. Long-term lanreotide treatment in six patients with congenital hyperinsulinism. Horm Res Paediatr 2012, 78(2):106-112.
49. 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):333-339.
50. Modan-Moses D., Koren I., Mazor-Aronovitch K., Pinhas-Hamiel O., Landau H. Treatment of congenital hyperinsulinism with lanreotide acetate (Somatuline Autogel). J Clin Endocrinol Metab 2011, 96(8):2312-2317.
51. Al-Shanafey S., Alkhudhur H. Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy. J Pediatr Surg 2012, 47(5):895-897.
52. 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.
53. 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. Clin Endocrinol (Oxf) 2013, 78(6):891-897.
54. Abdel Khalek M., Kandil E. Is octreotide safe for the management of persistent hyperinsulinemic hypoglycemia of infancy?. Eur J Pediatr Surg 2011, 21(3):188-189.
55. Calabria A.C., Li C., Gallagher P.R., Stanley C.A., De León D.D. 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):2585-2591.
56. Buraczewska B., Kopacz K., Myśliwiec M. Hyperinsulinism as a common cause of hypoglycemia in children-pathogenesis, diagnosis and treatment. Pediatr Endocrinol Diabetes Metab 2013, 19(1):24-28.
57. Banerjee I., Avatapalle B., Padidela R., et al. Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism. Clin Endocrinol (Oxf) 2013, 78(6):803-813.
58. Ribeiro M.J., Boddaert N., Delzescaux T., et al. Functional imaging of the pancreas: the role of [18F]fluoro-l-DOPA PET in the diagnosis of hyperinsulinism of infancy. Endocr Dev 2007, 12:55-66.
59. Kapoor RR, Gilbert C, Mohnike K, Blankenstein O, Fuechtner F, Hussain K. Congenital hyperinsulinism: [F]DOPA PET/CT scan of a focal lesion in the head of the pancreas. BMJ Case Rep. Published online - Feb 16, 2009. [bcr2007121178]. http://dx.doi.org/10.1136/bcr.2007.121178.
60. Barthlen W., Blankenstein O., Mau H., et al. Evaluation of [18F]fluoro-l-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism. J Clin Endocrinol Metab 2008, 93(3):869-875.
61. Hardy O.T., Hernandez-Pampaloni M., Saffer J.R., et al. Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol Metab 2007, 92(12):4706-4711.
62. 18F]-fluoro-l-dihydroxyphenylalanine positron emission tomography scan for persistent congenital hyperinsulinism in Japan. Clin Endocrinol (Oxf) 2011, 75(3):342-346.
63. Banerjee I., Skae M., Flanagan S.E., et al. The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. Eur J Endocrinol 2011, 164(5):733-740.
64. Capito C., Khen-Dunlop N., Ribeiro M.J., et al. Value of 18F-fluoro-l-dopa PET in the preoperative localization of focal lesions in congenital hyperinsulinism. Radiology 2009, 253(1):216-222.
65. Zani A., Nah S.A., Ron O., et al. The predictive value of preoperative fluorine-18-l-3,4-dihydroxyphenylalanine positron emission tomography-computed tomography scans in children with congenital hyperinsulinism of infancy. J Pediatr Surg 2011, 46(1):204-208.
66. Rahier J., Guiot Y., Sempoux C. Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism. Semin Pediatr Surg 2011, 20(1):3-12.
67. Capito C., de Lonlay P., Verkarre V., et al. The surgical management of atypical forms of congenital hyperinsulinism. Semin Pediatr Surg 2011, 20(1):54-55.
68. Adzick N.S., Thornton P.S., Stanley C.A., Kaye R.D., Ruchelli E. A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. J Pediatr Surg 2004, 39(3):270-275.
69. Barthlen W. Surgery in congenital hyperinsulinism-tips and tricks not only for surgeons. A practical guide. Semin Pediatr Surg 2011, 20(1):56-59.
70. Mazor-Aronovitch K., Landau H., Gillis D. Surgical versus non-surgical treatment of congenital hyperinsulinism. Pediatr Endocrinol Rev 2009, 6(3):424-430.
71. Laje P., Stanley C.A., Palladino A.A., Becker S.A., Adzick N.S. Pancreatic head resection and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of congenital hyperinsulinism. J Pediatr Surg 2012, 47(1):130-135.
72. Obatake M., Mochizuki K., Taura Y., et al. Pancreatic head resection preserving the main pancreatic duct for congenital hyperinsulinism of infancy. Pediatr Surg Int 2012, 28(9):935-937.
73. Ludwig A., Ziegenhorn K., Empting S., et al. Glucose metabolism and neurological outcome in congenital hyperinsulinism. Semin Pediatr Surg 2011, 20(1):45-49.
74. Al-Shanafey S., Habib Z., AlNassar S. Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. J Pediatr Surg 2009, 44(1):134-138. [discussion 138].
75. Al-Shanafey S. Laparoscopic vs open pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. J Pediatr Surg 2009, 44(5):957-961.
76. Liem N.T., Son T.N., Hoan N.T. Laparoscopic near-total pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy: report of two cases. J Laparoendosc Adv Surg Tech A 2010, 20(1):115-117.
77. Barthlen W., Mohnike W., Mohnike K. Techniques in pediatric surgery: congenital hyperinsulinism. Horm Res Paediatr 2011, 75(4):304-310.
78. Bax K.N., van der Zee D.C. The laparoscopic approach toward hyperinsulinism in children. Semin Pediatr Surg 2007, 16(4):245-251.