Congenital hyperinsulinism: current trends in diagnosis and therapy

Orphanet Journal of Rare Diseases - 2011
Jean Baptiste Arnoux1, Virginie Verkarre2, Cécile Saint‐Martin3, F. Montravers4, Anas Brassier1, Vassili Valayannopoulos1, Françis Brunelle1, J Fournet2, Jean Jacques Robert1, Yves Aigrain1, Christine Bellanné‐Chantelot3, Pascale de Lonlay1
1Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et l'Adulte, AP-HP Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France
2Département d'anatomopathologie, AP-HP Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris, 75743 Paris Cedex 15, France
3Département de Génétique, AP-HP Groupe Hospitalier Pitié-Salpétrière, Université Pierre et Marie Curie-Paris 6, Paris, France
4Service de Médecine Nucléaire, AP-HP Hôpital Tenon, Paris, France

Tóm tắt

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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Tài liệu tham khảo

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

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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

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.

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.

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

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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Orphanet Journal of Rare Diseases

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