Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism

Clinical Endocrinology

Volumn 78, Issue 6, 2013, Pages 803-813

  Banerjee, I ^a   Avatapalle, B ^a   Padidela, R ^a   Stevens, A ^b   Cosgrove, K E ^b   Clayton, P E ^b   Dunne, M J ^b  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

6 FLUORODOPA F 18; BIOLOGICAL MARKER; DIAZOXIDE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; OCTREOTIDE;

COMPUTER ASSISTED EMISSION TOMOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; INSULIN RELEASE; MOLECULAR MECHANICS; PANCREAS ISLET BETA CELL; PANCREAS RESECTION; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PERSONALIZED MEDICINE; PRIORITY JOURNAL; REVIEW; TREATMENT PLANNING;

ATP-BINDING CASSETTE TRANSPORTERS; CALCIUM; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPERINSULINISM; DECISION TREES; DIHYDROXYPHENYLALANINE; HUMANS; INFANT, NEWBORN; INSULIN; INSULIN-SECRETING CELLS; KATP CHANNELS; PANCREAS; POSITRON-EMISSION TOMOGRAPHY AND COMPUTED TOMOGRAPHY; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 84876565563     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12153     Document Type: Review

References (80)

1. Arnoux, J.B., Verkarre, V., Saint-Martin, C., et al,. (2012) Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet Journal of Rare Diseases, 6, 63.
2. Senniappan, S., Shanti, B., James, C., et al,. (2012) Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. Journal of Inherited Metabolic Disease, 35, 589-601.
3. Banerjee, I., Skae, M., Flanagan, S.E., et al,. (2011) The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. European Journal of Endocrinology, 164, 733-740.
4. Palladino, A.A., &, Stanley, C.A., (2011) A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. Seminars in Pediatric Surgery, 20, 32-37.
5. Beltrand, J., Caquard, M., Arnoux, J.B., et al,. (2012) Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care, 35, 198-203.
6. Gataullina, S., Dellatolas, G., Perdry, H., et al,. (2012) Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia. Developmental Medicine and Child Neurology, 54, 1012-1017.
7. Meissner, T., Wendel, U., Burgard, P., et al,. (2003) Long-term follow-up of 114 patients with congenital hyperinsulinism. European Journal of Endocrinology, 149, 43-51.
8. Menni, F., de Lonlay, P., Sevin, C., et al,. (2001) Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics, 107, 476-479.
9. Ng, Y.T., (2012) The hitchhiker's guide to the role of (transient) hypoglycemia in refractory seizures and epilepsy. Pediatric Neurology, 47, 123-124.
10. Plecko, B., Stoeckler-Ipsiroglu, S., Schober, E., et al,. (2002) Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopy. Pediatric Research, 52, 301-306.
11. Banerjee, I., Avatapalle, B., Petkar, A., et al,. (2012) The association of cardiac ventricular hypertrophy with congenital hyperinsulinism. European Journal of Endocrinology, 167, 619-624.
12. Avatapalle, B., Banerjee, I., Malaiya, N., et al,. (2012) Echocardiography monitoring for diazoxide induced pericardial effusion. BMJ case reports, 201, 2.
13. Avatapalle, B., Padidela, R., Randell, T., et al,. (2012) Drug-induced hepatitis following use of octreotide for long-term treatment of congenital hyperinsulinism. BMJ case reports, doi: 10.1136/bcr-2012-006271.
14. Laje, P., Halaby, L., Adzick, N.S., et al,. (2010) Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. Pediatric Diabetes, 11, 142-147.
15. Dunne, M.J., Cosgrove, K.E., Shepherd, R.M., et al,. (2004) Hyperinsulinism in infancy: from basic science to clinical disease. Physiological Research, 84, 239-275.
16. Kane, C., Shepherd, R.M., Squires, P.E., et al,. (1996) Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nature Medicine, 2, 1344-1347.
17. Powell, P.D., Bellanne-Chantelot, C., Flanagan, S.E., et al,. (2011) In vitro recovery of ATP-sensitive potassium channels in beta-cells from patients with congenital hyperinsulinism of infancy. Diabetes, 60, 1223-1228.
18. Edghill, E.L., Flanagan, S.E., &, Ellard, S., (2010) Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Reviews in Endocrine & Metabolic Disorders, 11, 193-198.
19. Henquin, J.C., Nenquin, M., Sempoux, C., et al,. (2011) In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions. Journal of Clinical Investigation, 121, 3932-3942.
20. Marchetti, P., Lupi, R., Bugliani, M., et al,. (2012) A local glucagon-like peptide 1 (GLP-1) system in human pancreatic islets. Diabetologia, 55, 3262-3272.
21. Calabria, A.C., Li, C., Gallagher, P.R., et al,. (2012) 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, 61, 2585-2591.
22. Sempoux, C., Capito, C., Bellanne-Chantelot, C., et al,. (2011) Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. The Journal of Clinical Endocrinology and Metabolism, 96, 3785-3793.
23. Verkarre, V., Fournet, J.C., de Lonlay, P., et al,. (1998) Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. Journal of Clinical Investigation, 102, 1286-1291.
24. Bellanne-Chantelot, C., Saint-Martin, C., Ribeiro, M.J., et al,. (2010) ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. Journal of Medical Genetics, 47, 752-759.
25. Shemer, R., Avnon Ziv, C., Laiba, E., et al,. (2012) Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism. Diabetes, 61, 258-263.
26. Flanagan, S.E., Kapoor, R.R., Smith, V.V., et al,. (2011) Paternal Uniparental Isodisomy of Chromosome 11p15·5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia. Front Endocrinol (Lausanne), 2, 66.
27. James, C., Kapoor, R.R., Ismail, D., et al,. (2009) The genetic basis of congenital hyperinsulinism. Journal of Medical Genetics, 46, 289-299.
28. Flanagan, S.E., Xie, W., Caswell, R., et al,. (2012) Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation. American Journal of Human Genetics 92, 131-136.
29. Varma, V., Tariciotti, L., Coldham, C., et al,. (2011) Preoperative localisation and surgical management of insulinoma: single centre experience. Digestive surgery, 28, 63-73.
30. Kumaran, A., Kapoor, R.R., Flanagan, S.E., et al,. (2010) Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks. Hormone Research in Paediatrics, 73, 287-292.
31. Flanagan, S.E., Kapoor, R.R., Banerjee, I., et al,. (2011) Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. Clinical Genetics, 79, 582-587.
32. Pinney, S.E., MacMullen, C., Becker, S., et al,. (2008) Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. Journal of Clinical Investigation, 118, 2877-2886.
33. Flanagan, S.E., Kapoor, R.R., Mali, G., et al,. (2010) Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. European Journal of Endocrinology, 162, 987-992.
34. Flanagan, S.E., Kapoor, R.R., &, Hussain, K., (2011) Genetics of congenital hyperinsulinemic hypoglycemia. Seminars in Pediatric Surgery, 20, 13-17.
35. Hussain, K., Challis, B., Rocha, N., et al,. (2011) An activating mutation of AKT2 and human hypoglycemia. Science, 334, 474.
36. Kapoor, R.R., Flanagan, S.E., Fulton, P., et al,. (2009) Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. European Journal of Endocrinology, 161, 731-735.
37. Carette, C., Dubois-Laforgue, D., Saint-Martin, C., et al,. (2010) Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies. Diabetic Medicine, 27, 1454-1458.
38. Bonnefond, A., Philippe, J., Durand, E., et al,. (2012) Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS ONE, 7, e37423.
39. Riveline, J.P., Rousseau, E., Reznik, Y., et al,. (2012) Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations. Diabetes Care, 35, 248-251.
40. Bowman, P., Flanagan, S.E., Edghill, E.L., et al,. (2012) Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia, 55, 123-127.
41. Molven, A., Matre, G.E., Duran, M., et al,. (2004) Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes, 53, 221-227.
42. Li, C., Chen, P., Palladino, A., et al,. (2010) Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. Journal of Biological Chemistry, 285, 31806-31818.
43. Flanagan, S.E., Patch, A.M., Locke, J.M., et al,. (2011) Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. The Journal of Clinical Endocrinology and Metabolism, 96, E498-502.
44. Gonzalez-Barroso, M.M., Giurgea, I., Bouillaud, F., et al,. (2008) Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS ONE, 3, e3850.
45. Stanescu, D.E., Hughes, N., Kaplan, B., et al,. (2012) Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A. The Journal of Clinical Endocrinology and Metabolism, 97, E2026-2030.
46. Lynn, A.M., King, R.I., Mackay, R.J., et al,. (2012) BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency. Annals of Clinical Biochemistry, 49, 201-203.
47. Leveen, P., Kotarsky, H., Morgelin, M., et al,. (2011) The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. Hepatology, 53, 437-447.
48. Hennewig, U., Hadzik, B., Vogel, M., et al,. (2008) Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. Journal of Human Genetics, 53, 573-577.
49. Meissner, T., Rabl, W., Mohnike, K., et al,. (2001) Hyperinsulinism in syndromal disorders. Acta Paediatrica, 90, 856-859.
50. Nekrep, N., Wang, J., Miyatsuka, T., et al,. (2008) Signals from the neural crest regulate beta-cell mass in the pancreas. Development, 135, 2151-2160.
51. Loscalzo, J., Kohane, I., &, Barabasi, A.L., (2007) Human disease classification in the postgenomic era: a complex systems approach to human pathobiology. Molecular Systems Biology, 3, 124.
52. Abernethy, L.J., Davidson, D.C., Lamont, G.L., et al,. (1998) Intra-arterial calcium stimulation test in the investigation of hyperinsulinaemic hypoglycaemia. Archives of Disease in Childhood, 78, 359-363.
53. Giurgea, I., Laborde, K., Touati, G., et al,. (2004) Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism. The Journal of Clinical Endocrinology and Metabolism, 89, 925-929.
54. Stanley, C.A., Thornton, P.S., Ganguly, A., et al,. (2004) Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. The Journal of Clinical Endocrinology and Metabolism, 89, 288-296.
55. de Lonlay, P., Fournet, J.C., Rahier, J., et al,. (1997) Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. Journal of Clinical Investigation, 100, 802-807.
56. Ribeiro, M.J., Boddaert, N., Bellanne-Chantelot, C., et al,. (2007) The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children. European Journal of Nuclear Medicine and Molecular Imaging, 34, 2120-2128.
57. De Leon, D.D., &, Stanley, C.A., (2007) Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nature Clinical Practice Endocrinology & Metabolism, 3, 57-68.
58. Mohnike, W., Barthlen, W., Mohnike, K., et al,. (2011) Positron emission tomography/computed tomography diagnostics by means of fluorine-18-L- dihydroxyphenylalanine in congenital hyperinsulinism. Seminars in Pediatric Surgery, 20, 23-27.
59. Ericson, L.E., Hakanson, R., &, Lundquist, I., (1977) Accumulation of dopamine in mouse pancreatic B-cells following injection of L-DOPA. Localization to secretory granules and inhibition of insulin secretion. Diabetologia, 13, 117-124.
60. Borelli, M.I., Villar, M.J., Orezzoli, A., et al,. (1997) Presence of DOPA decarboxylase and its localisation in adult rat pancreatic islet cells. Diabetic Medicine, 23, 161-163.
61. de Lonlay, P., Simon-Carre, A., Ribeiro, M.J., et al,. (2006) Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion. The Journal of Clinical Endocrinology and Metabolism, 91, 933-940.
62. Ahlstrom, H., Eriksson, B., Bergstrom, M., et al,. (1995) Pancreatic neuroendocrine tumors: diagnosis with PET. Radiology, 195, 333-337.
63. Becherer, A., Szabo, M., Karanikas, G., et al,. (2004) Imaging of advanced neuroendocrine tumors with (18)F-FDOPA PET. Journal of Nuclear Medicine, 45, 1161-1167.
64. Barthlen, W., Blankenstein, O., Mau, H., et al,. (2008) Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism. The Journal of Clinical Endocrinology and Metabolism, 93, 869-875.
65. Otonkoski, T., Nanto-Salonen, K., Seppanen, M., et al,. (2006) Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes, 55, 13-18.
66. Ribeiro, M.J., De Lonlay, P., Delzescaux, T., et al,. (2005) Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. Journal of Nuclear Medicine, 46, 560-566.
67. Hardy, O.T., Hernandez-Pampaloni, M., Saffer, J.R., et al,. (2007) Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. The Journal of Clinical Endocrinology and Metabolism, 92, 4706-4711.
68. Blomberg, B.A., Moghbel, M.C., Saboury, B., et al,. (2013) The Value of Radiologic Interventions and (18)F-DOPA PET in Diagnosing and Localizing Focal Congenital Hyperinsulinism: Systematic Review and Meta-Analysis. Molecular Imaging and Biology, 15, 97-105.
69. Treglia, G., Mirk, P., Giordano, A., et al,. (2012) Diagnostic performance of fluorine-18-dihydroxyphenylalanine positron emission tomography in diagnosing and localizing the focal form of congenital hyperinsulinism: a meta-analysis. Pediatric Radiology, 42, 1372-1379.
70. Masue, M., Nishibori, H., Fukuyama, S., et al,. (2011) Diagnostic accuracy of [(1)(8)F]-fluoro-L-dihydroxyphenylalanine positron emission tomography scan for persistent congenital hyperinsulinism in Japan. Clinical Endocrinology (Oxf), 75, 342-346.
71. Zani, A., Nah, S.A., Ron, O., et al,. (2011) The predictive value of preoperative fluorine-18-L-3,4-dihydroxyphenylalanine positron emission tomography-computed tomography scans in children with congenital hyperinsulinism of infancy. Journal of Pediatric Surgery, 46, 204-208.
72. Yorifuji, T., Hosokawa, Y., Fujimaru, R., et al,. (2011) Lasting 18F-DOPA PET uptake after clinical remission of the focal form of congenital hyperinsulinism. Hormone Research in Paediatrics, 76, 286-290.
73. Yorifuji, T., Kawakita, R., Nagai, S., et al,. (2011) Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes. The Journal of Clinical Endocrinology and Metabolism, 96, E141-145.
74. Pearce, M.S., Salotti, J.A., Little, M.P., et al,. (2012) Radiation exposure from CT scans in childhood and subsequent risk of leukaemia and brain tumours: a retrospective cohort study. Lancet, 380, 499-505.
75. Connolly, B.M., Vanko, A., McQuade, P., et al,. (2012) Ex vivo imaging of pancreatic beta cells using a radiolabeled GLP-1 receptor agonist. Molecular Imaging and Biology, 14, 79-87.
76. Tornehave, D., Kristensen, P., Romer, J., et al,. (2008) Expression of the GLP-1 receptor in mouse, rat, and human pancreas. Journal of Histochemistry and Cytochemistry, 56, 841-851.
77. Korner, M., Stockli, M., Waser, B., et al,. (2007) GLP-1 receptor expression in human tumors and human normal tissues: potential for in vivo targeting. Journal of Nuclear Medicine, 48, 736-743.
78. Kuhnen, P., Marquard, J., Ernert, A., et al,. (2012) Long-term lanreotide treatment in six patients with congenital hyperinsulinism. Hormone Research in Paediatrics, 78, 106-112.
79. Le Quan Sang, K.H., Arnoux, J.B., Mamoune, A., et al,. (2012) Successful treatment of congenital hyperinsulinism with long-acting release octreotide. European Journal of Endocrinology, 166, 333-339.
80. Modan-Moses, D., Koren, I., Mazor-Aronovitch, K., et al,. (2011) Treatment of congenital hyperinsulinism with lanreotide acetate (Somatuline Autogel). The Journal of Clinical Endocrinology and Metabolism, 96, 2312-2317.