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Open Access 01-12-2011 | Review

Congenital hyperinsulinism: current trends in diagnosis and therapy

Authors: Jean-Baptiste Arnoux, Virginie Verkarre, Cécile Saint-Martin, Françoise Montravers, Anaïs Brassier, Vassili Valayannopoulos, Francis Brunelle, Jean-Christophe Fournet, Jean-Jacques Robert, Yves Aigrain, Christine Bellanné-Chantelot, Pascale de Lonlay

Published in: Orphanet Journal of Rare Diseases | Issue 1/2011

Abstract

Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as high as 1/2, 500 in countries with substantial consanguinity. Recurrent episodes of hyperinsulinemic hypoglycemia may expose to high risk of brain damage. Hypoglycemias are diagnosed because of seizures, a faint, or any other neurological symptom, in the neonatal period or later, usually within the first two years of life. After the neonatal period, the patient can present the typical clinical features of a hypoglycemia: pallor, sweat and tachycardia. HI is a heterogeneous disorder with two main clinically indistinguishable histopathological lesions: diffuse and focal. Atypical lesions are under characterization. Recessive ABCC8 mutations (encoding SUR1, subunit of a potassium channel) and, more rarely, recessive KCNJ11 (encoding Kir6.2, subunit of the same potassium channel) mutations, are responsible for most severe diazoxide-unresponsive HI. Focal HI, also diazoxide-unresponsive, is due to the combination of a paternally-inherited ABCC8 or KCNJ11 mutation and a paternal isodisomy of the 11p15 region, which is specific to the islets cells within the focal lesion. Genetics and ¹⁸F-fluoro-L-DOPA positron emission tomography (PET) help to diagnose diffuse or focal forms of HI. Hypoglycemias must be rapidly and intensively treated to prevent severe and irreversible brain damage. This includes a glucose load and/or a glucagon injection, at the time of hypoglycemia, to correct it. Then a treatment to prevent the recurrence of hypoglycemia must be set, which may include frequent and glucose-enriched feeding, diazoxide and octreotide. When medical and dietary therapies are ineffective, or when a focal HI is suspected, surgical treatment is required. Focal HI may be definitively cured when the partial pancreatectomy removes the whole lesion. By contrast, the long-term outcome of diffuse HI after subtotal pancreatectomy is characterized by a high risk of diabetes, but the time of its onset is hardly predictable.

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Stanley CA: Hyperinsulinism in infants and children. Ped Clin North Am. 1997, 44: 363-374. 10.1016/S0031-3955(05)70481-8.CrossRef

Bruining GJ: Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Current Opinion in Pediatrics. 1990, 2: 758-765. 10.1097/00008480-199008000-00024.CrossRef

Thomas CG, Underwood LE, Carney CN, Dolcourt JL, Whitt JJ: Neonatal and infantile hypoglycemia due to insulin excess: new aspects of diagnosis and surgical management. Ann Surg. 1977, 185: 505-517. 10.1097/00000658-197705000-00002.PubMedCentralCrossRefPubMed

Hussain K: Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy. Horm Res. 2008, 69: 2-13. 10.1159/000111789.CrossRefPubMed

Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ: Hyperinsulinism in infancy from basic science to clinical disease. Physiol Rev. 2004, 84: 239-275. 10.1152/physrev.00022.2003.CrossRefPubMed

Bellanné-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet JC, Jaubert F, Aigrain Y, Nihoul-Fékété C, de Lonlay P: ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet. 2010, 47 (11): 752-759. 10.1136/jmg.2009.075416.CrossRefPubMed

Flanagan SE, Kapoor RR, Hussain K: Genetics of congenital hyperinsulinemic hypoglycemia. Semin Pediatr Surg. 2011, 20 (1): 13-17. 10.1053/j.sempedsurg.2010.10.004.CrossRefPubMed

de Lonlay P, Fournet JC, Touati G, Martin D, Sevin C, Delagne V, Sempoux C, Brusset C, Laborde C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul Fékété C, Robert JJ, Saudubray JM: Heterogeneity of persistent hyperinsulinemic hypoglycemia of infancy. A series of 175 cases. Eur J Pediatr. 2002, 161: 37-48.CrossRefPubMed

Raizen DM, Brooks-Kayal A, Steinkrauss L, Tennekoon GI, Stanley CA, Kelly A: Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. J Pediatr. 2005, 146: 388-394. 10.1016/j.jpeds.2004.10.040.CrossRefPubMed

10.

Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E, Kere J, Sipilä I: Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes. 2003, 52: 199-204. 10.2337/diabetes.52.1.199.CrossRefPubMed

11.

Højlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, Pedersen O, Beck-Nielsen H: A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. Diabetes. 2004, 53: 1592-1598. 10.2337/diabetes.53.6.1592.CrossRefPubMed

12.

Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J: Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995, 268: 426-429. 10.1126/science.7716548.CrossRefPubMed

13.

Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP, Bryan J, Aguilar-Bryan L, Permutt MA: Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet. 1996, 5: 1813-1822. 10.1093/hmg/5.11.1813.CrossRefPubMed

14.

Thomas P, Ye Y, Lightner E: Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet. 1996, 5: 1809-1812. 10.1093/hmg/5.11.1809.CrossRefPubMed

15.

Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, Permutt MA: A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes. 1997, 46: 1743-1748. 10.2337/diabetes.46.11.1743.CrossRefPubMed

16.

Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC: Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med. 1998, 338: 226-230. 10.1056/NEJM199801223380404.CrossRefPubMed

17.

Stanley CA, Lieu Y, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M: Hyperinsulinemia and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med. 1998, 338: 1352-1357. 10.1056/NEJM199805073381904.CrossRefPubMed

18.

Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE: Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest. 2001, 108: 457-465.PubMedCentralCrossRefPubMed

19.

Thornton PS, Sumner AE, Ruchelli ED, Spielman RS, Baker L, Stanley CA: Familial and sporadic hyperinsulinism: histopathological findings and segregation analysis support a single autosomal recessive disorder. J Pediatr. 1991, 119: 721-724. 10.1016/S0022-3476(05)80286-0.CrossRefPubMed

20.

Huypens P, Ling Z, Pipeleers D, Schuit F: Glucagon receptors on human islet cells contribute to glucose competence on insulin release. Diabetologia. 2000, 44: 1012-1019.CrossRef

21.

Gonzalez-Barroso MM, Giurgea I, Bouillaud F, Anedda A, Bellanné-Chantelot C, Hubert L, de Keyzer Y, de Lonlay P, Riquier D: Mutations in UCP2 in Congenital Hyperinsulinism reveal a role for regulation of insulin secretion. PLOS. 2008, 3 (12): e3850.CrossRef

22.

Valayannopoulos V, Romano S, Mention K, Vassault A, Rabier D, Polak M, Robert JJ, de Keyzer Y, de Lonlay P: What's new in metabolic and genetic hypoglycaemias: diagnosis and management. Eur J Ped. 2008, 167 (3): 257-265. 10.1007/s00431-007-0600-2.CrossRef

23.

Krauss Z, Zhang CY, Lowell BB: A significant portion of mitochondrial proton leak in intact thymocytes depends on expression of UCP2. Proc Natl Acad Sci USA. 2002, 99: 118-22. 10.1073/pnas.012410699.PubMedCentralCrossRefPubMed

24.

Gupta RK, Vatamaniuk MZ, Lee CS, Flaschen RC, Fulmer JT, Matschinsky FM, Duncan SA, Kaestner KH: The MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretion. J Clin Invest. 2005, 115 (4): 1006-1015.PubMedCentralCrossRefPubMed

25.

Sugden MC, Holness MJ: Potential role of peroxisome proliferator-activated receptor-alpha in the modulation of glucose-stimulated insulin secretion. Diabetes. 2004, 53 (Suppl 1): S71-81.CrossRefPubMed

26.

Goossens A, Gepts W, Saudubray JM, Bonnefont JP, Nihoul-Fekete , Heitz Pu, Klöppel G: Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol. 1989, 13: 766-775. 10.1097/00000478-198909000-00006.CrossRefPubMed

27.

Goudswaard WB, Houthoff HJ, Koudstaal J, Zwierstra RP: Nesidioblastosis and endocrine hyperplasia of the pancreas: a secondary phenomenon. Hum Pathol. 1986, 17: 46-53. 10.1016/S0046-8177(86)80154-X.CrossRefPubMed

28.

Rahier J, Fält K, Müntefering H, Becker K, Gepts W, Falkmer S: The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells?. Diabetologia. 1984, 26: 282-289.CrossRefPubMed

29.

de Lonlay P, Simon A, Galmiche-Rolland L, Giurgea I, Verkarre V, Aigrain Y, Santiago-Ribeiro MJ, Polak M, Robert JJ, Bellanné-Chantelot C, Brunelle F, Nihoul-Fekete C, Jaubert F: Neonatal hyperinsulinism: clinicopathologic correlation. Hum Pathol. 2007, 38: 387-399. 10.1016/j.humpath.2006.12.007.CrossRef

30.

de Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C: Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest. 1997, 100: 802-807. 10.1172/JCI119594.PubMedCentralCrossRefPubMed

31.

Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C: Paternal mutation of the sulfonylurea receptor (ABCC8) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest. 1998, 102: 1286-1291. 10.1172/JCI4495.PubMedCentralCrossRefPubMed

32.

Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Ballanné-Chantelot C, de Lonlay P, Jaubert F: Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism. Clin Endocrinol Metab. 2008, 93 (12): 4941-4947. 10.1210/jc.2008-0673.CrossRef

33.

Ismail D, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, Pierro A, Ellard S, Hussain K: Familial Focal Congenital Hyperinsulinism. J Clin Endocrinol Metab. 2011, 96 (1): 24-28. 10.1210/jc.2010-1524.PubMedCentralCrossRefPubMed

34.

35.

Bonnefont JP, Specola NB, Vassault A, Lombes A, Ogier H, de Klerk JB, Munnich A, Coude M, Paturneau-Jouas M, Saudubray JM: The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr. 1990, 150 (2): 80-85. 10.1007/BF02072043.CrossRefPubMed

36.

de Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fékété C, Rahier J, Junien C, Robert JJ, Saudubray JM: Facial appearance in persistent hyperinsulinemic hypoglycemia. Am J Med Genet. 2002, 111: 130-3. 10.1002/ajmg.10463.CrossRefPubMed

37.

de Lonlay P, Cuer M, Vuillaumier-Barrot S, Beaune G, Castelnau P, Kretz M, Durand G, Saudubray JM, Seta N: Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. J Pediatr. 1999, 135: 379-383. 10.1016/S0022-3476(99)70139-3.CrossRefPubMed

38.

Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F: Two patients with Kabuki syndrome presenting with endocrine problems. J Pediatr Endocrinol Metab. 2001, 14: 215-220.PubMed

39.

Alexander S, Ramadan D, Alkhayyat H, Al-Sharkawi I, Backer KC, El-Sabban F, Hussain K: Costello syndrome and hyperinsulinemic hypoglycemia. Am J Med Genet A. 2005, 139 (3): 227-230.CrossRefPubMed

40.

Kapoor RR, James C, Hussain K: Hyperinsulinism in developmental syndromes. Endocr Dev. 2009, 14: 95-113.CrossRefPubMed

41.

Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Fardon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B: A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type IC gene. Nat Genet. 2000, 26: 56-60. 10.1038/79178.CrossRefPubMed

42.

Hennewig U, Hadzik B, Vogel M, Meissner T, Goecke T, Peters H, Selzer G, Mayatepek E, Hoehn T: Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. J Hum Genet. 2008, 53 (6): 573-577. 10.1007/s10038-008-0275-1.CrossRefPubMed

43.

Meissner T, Rabl W, Mohnike K, Scholl S, Santer R, Mayatepek E: Hyperinsulinism in syndromal disorders. Acta Paediatr. 2001, 90 (8): 856-859.CrossRefPubMed

44.

Weksberg R, Shen DR, Fei YL, Song QL, Squire J: Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet. 1993, 5: 143-50. 10.1038/ng1093-143.CrossRefPubMed

45.

Hussain K, Cosgrove KE, Sheperd RM, Luharia A, Smith W, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ: Hyperinsulinemic hypoglycaemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine trophosphate-sensitive potassium channels. J Clin Endocrinol Metab. 2005, 90 (7): 4376-4382. 10.1210/jc.2005-0158.CrossRefPubMed

46.

DeBaun MR, King AA, White N: Hypoglycemia in Beckwith-Wiedemann syndrome. Semin Perinatol. 2000, 24 (2): 164-171. 10.1053/sp.2000.6366.CrossRefPubMed

47.

Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ: Perlman syndrome: four additional cases and review. Am J Med Genet. 1999, 86 (5): 439-446. 10.1002/(SICI)1096-8628(19991029)86:5<439::AID-AJMG9>3.0.CO;2-4.CrossRefPubMed

48.

Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002, 30: 365-366. 10.1038/ng863.CrossRefPubMed

49.

Giurgea I, Ulinski T, Touati G, Sempoux C, Mochel F, Brunelle F, Saudubray JM, Fekete C, de Lonlay P: Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy. Pediatrics. 2005, 116 (1): e145-8. 10.1542/peds.2004-2331.CrossRefPubMed

50.

Tucker ON, Crotty PL, Conlon KC: The management of insulinomas. Brit J Surg. 2006, 93: 264-275. 10.1002/bjs.5280.CrossRefPubMed

51.

Service FJ, McMahon MM, O'Brien PC, Ballard DJ: Functioning insulinomas - incidence, recurrence, and long-tern survival of patients: a 60-years study. Mayo Clin Proc. 1991, 66: 711-719.CrossRefPubMed

52.

O'Rahilly S, Gray H, Humphreys PJ, Krook A, Polonsky KS, White A, Gibson S, Taylor K, Carr C: Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. New Eng J Med. 1995, 333: 1386-1390. 10.1056/NEJM199511233332104.CrossRefPubMed

53.

Fukuda I, Hizuka N, Ishikawa Y, Yasumoto K, Murakami Y, Sata A, Morita J, Kurimoto M, Okubo Y, Takano K: Clinical features of insulin-like growth factor-II producing non-islet-cell tumor hypoglycemia. Growth Horm IGF Res. 2006, 16 (4): 211-216. 10.1016/j.ghir.2006.05.003.CrossRefPubMed

54.

Tsuro K, Kojima H, Okamoto S, Yoshiji H, Fujimoto M, Uemura M, Yoshikawa M, Nakamura T, Kou S, Nakajima Y, Fukui H: Glucocorticoid therapy ameliorated hypoglycemia in insulin-like growth factor-II-producing solitary fibrous tumor. Intern Med. 2006, 45 (8): 525-529. 10.2169/internalmedicine.45.1611.CrossRefPubMed

55.

Hussain K, Blankenstein O, De Lonlay P, Christesen HT: Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management. Arch Dis Child. 2007, 92: 568-570. 10.1136/adc.2006.115543.PubMedCentralCrossRefPubMed

56.

Panten U, Burgfeld J, Goerke F, Rennicke M, Schwanstecher M, Wallasch A, Zünkler BJ, Lenzen S: Control of insulin secretion by sulfonylureas, meglitinide and diazoxide in relation to their binding to the sulfonylurea receptor in pancreatic islets. Biochem Pharmacol. 1989, 38 (8): 1217-1229. 10.1016/0006-2952(89)90327-4.CrossRefPubMed

57.

Shilyanski J, Fisher S, Cutz E, Perlman K, Filler RM: Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?. J Pediatr Surg. 1997, 32: 342-346. 10.1016/S0022-3468(97)90207-4.CrossRef

58.

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. 10.1007/s12325-008-0049-3.CrossRefPubMed

59.

de Lonlay-Debeney P, Poggi-Travert F, Fournet JC, Sempoux C, Vici CD, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fékété C, Robert JJ, Saudubray JM: Clinical features of 52 neonates with hyperinsulinism. N Engl J Med. 1999, 340: 1169-1175. 10.1056/NEJM199904153401505.CrossRefPubMed

60.

Laje P, Halaby L, Adzick NS, Stanley CA: Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. Pediatr Diabetes. 2010, 11 (2): 142-147. 10.1111/j.1399-5448.2009.00547.x.CrossRefPubMed

61.

Thornton PS, Alter CA, Katz LE, Baker L, Stanley CA: Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism. J Pediatr. 1993, 123: 637-643. 10.1016/S0022-3476(05)80969-2.CrossRefPubMed

62.

Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT: Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene. PLoS Med. 2007, 4: e118. 10.1371/journal.pmed.0040118.PubMedCentralCrossRefPubMed

63.

Barthlen W, Blankenstein O, Mau H, Koch M, Höhne C, Mohnike W, Eberhard T, Fuechtner F, Lorenz-Depiereux B, Mohnike K: Evaluation of (18F)FDOPA PET-CT for surgery in focal congenital hyperinsulinism. J Clin Endocrinol Metab. 2008, 93 (3): 869-875.CrossRefPubMed

64.

Touati G, Poggi-Travert F, Ogier de Baulny H, Rahier J, Brunelle F, Nihoul-Fekete C, Czernichow P, Saudubray JM: Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr. 1998, 157: 628-633. 10.1007/s004310050900.CrossRefPubMed

65.

Bax KN, van der Zee DC: The laparoscopic approach toward hyperinsulinism in children. Semin Pediatr Surg. 2007, 16: 245-51. 10.1053/j.sempedsurg.2007.06.006.CrossRefPubMed

66.

Mazor-Aronovitch K, Gillis D, Lobel D, Hirsch HJ, Pinhas-Hamiel O, Modan-Moses D, Glaser B, Landau H: Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism. Eur J Endocrinol. 2007, 157: 491-7. 10.1530/EJE-07-0445.CrossRefPubMed

67.

Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipilä I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J: Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet. 2007, 81: 467-474. 10.1086/520960.PubMedCentralCrossRefPubMed

68.

Hardy OT, Hernandez-Pampaloni M, Saffer JR, Suchi M, Ruchelli E, Zhuang H, Ganguly A, Freifelder R, Adzick NS, Alavi A, Stanley CA: Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr. 2007, 150: 140-145. 10.1016/j.jpeds.2006.08.028.CrossRefPubMed

69.

Peranteau WH, Ganguly A, Steinmuller L, Thornton P, Johnson MP, Howell LJ, Stanley CA, Adzick NS: Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. Fetal Diagn Ther. 2006, 21: 515-518. 10.1159/000095664.CrossRefPubMed

70.

Ribeiro MJ, Boddaert N, Delzescaux T, Valayannopoulos V, Bellanné-Chantelot C, Jaubert F, Verkarre V, Nihoul-Fékété C, Brunelle F, De Lonlay P: 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.CrossRefPubMed

71.

Jaffé R, Hashida Y, Yunis EJ: Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy. Lab Invest. 1980, 42: 356-365.PubMed

72.

Rahier J, Sempoux C, Fournet JC, Poggi F, Brunelle F, Nihoul-Fekete C, Saudubray JM, Jaubert F: Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology. 1998, 32: 15-19. 10.1046/j.1365-2559.1998.00326.x.CrossRefPubMed

73.

Brunelle F, Negre V, Barth MO, Fekete CN, Czernichow P, Saudubray JM, Kuntz F, Tach T, Lallemand D: Pancreatic venous samplings in infants and children with primary hyperinsulinism. Pediatr Radiol. 1989, 19: 100-103. 10.1007/BF02387895.CrossRefPubMed

74.

Dubois J, Brunelle F, Touati G, Sebag G, Nuttin C, Thach T, Nikoul-Fekete C, Rahier J, Saudubray JM: Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr Radiol. 1995, 25: 512-516. 10.1007/BF02015782.CrossRefPubMed

75.

Hardy O, Hernandez-Pampaloni M, Saffer JR, Scheuermann JS, Ernst LM, Freifelder R, Zhuang H, MacMullen C, Becker S, Adzick NS, Divgi C, Alavi A, Stanley CA: Accuracy of [18F]Fluorodopa Positron Emission Tomography for Diagnosis and Localizing Focal Congenital Hyperinsulinism. J Clin Endo Metab. 2008, 92 (12): 4706-4711.CrossRef

76.

Ribeiro MJ, De Lonlay P, Delzescaux T, Boddaert N, Jaubert F, Bourgeois S, Dollé F, Nihoul-Fékété C, Syrota A, Brunelle F: Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. J Nucl Med. 2005, 46: 560-566.PubMed

77.

Filan PM, Inder TE, Cameron FJ, Kean MJ, Hunt RW: Neonatal hypoglycemia and occipital cerebral injury. J Pediatr. 2006, 148: 552-555. 10.1016/j.jpeds.2005.11.015.CrossRefPubMed

78.

Otonkoski T, Näntö-Salonen K, Seppänen M, Veijola R, Huopio H, Hussain K, Tapanainen P, Eskola O, Parkkola R, Ekström K, Guiot Y, Rahier J, Laakso M, Rintala R, Nuutila P, Minn H: Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes. 2006, 55: 13-18. 10.2337/diabetes.55.01.06.db05-1128.CrossRefPubMed

79.

Menni F, de Lonlay P, Sevin C, Touati G, Peigné C, Barbier V, Nihoul-Fékété C, Saudubray JM, Robert JJ: Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics. 2001, 107: 476-479. 10.1542/peds.107.3.476.CrossRefPubMed

80.

Crétolle C, Fékété CN, Jan D, Nassogne MC, Saudubray JM, Brunelle F, Rahier J: Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000. J Pediatr Surg. 2002, 37: 155-158. 10.1053/jpsu.2002.30241.CrossRefPubMed

81.

De León DD, Li C, Delson MI, Matschinsky FM, Stanley CA, Stoffers DA: 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): 25786-25793. 10.1074/jbc.M804372200.PubMedCentralCrossRefPubMed

82.

Szollosi A, Nenquin M, Henquin JC: Pharmacological stimulation and inhibition of insulin secretion in mouse islets lacking ATP-sensitive K+ channels. Br J Pharmacol. 2010, 159 (3): 669-677. 10.1111/j.1476-5381.2009.00588.x.PubMedCentralCrossRefPubMed

83.

Shanbag P, Pathak A, Vaidya M, Shahid SK: Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine. Indian J Pediatr. 2002, 69 (3): 271-272. 10.1007/BF02734240.CrossRefPubMed

84.

Eichmann D, Hufnagel M, Quick P, Santer R: Treatment of hyperinsulinaemic hypoglycaemia with nifedipine. Eur J Pediatr. 1999, 158 (3): 204-206. 10.1007/s004310051049.CrossRefPubMed

85.

von Rohden L, Mohnike K, Mau H, Eberhard T, Mohnike W, Blankenstein O, Empting S, Koch M, Füchtner F, Barthlen W: Intraoperative Sonography: A Technique for Localizing Focal Forms of Congenital Hyperinsulinism in the Pancreas. Ultraschall Med. 2011, 32 (1): 74-80. 10.1055/s-0029-1245598.CrossRefPubMed

Title: Congenital hyperinsulinism: current trends in diagnosis and therapy
Authors: Jean-Baptiste Arnoux
Virginie Verkarre
Cécile Saint-Martin
Françoise Montravers
Anaïs Brassier
Vassili Valayannopoulos
Francis Brunelle
Jean-Christophe Fournet
Jean-Jacques Robert
Yves Aigrain
Christine Bellanné-Chantelot
Pascale de Lonlay
Publication date: 01-12-2011
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2011
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-6-63

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Congenital hyperinsulinism: current trends in diagnosis and therapy

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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