BibTex RIS Kaynak Göster

Congenital Hyperinsulinism: Overview and Clinical Update

Yıl 2011, Cilt: 3 Sayı: 1, 1 - 15, 01.01.2011

Öz

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy. This review gives an overview and update of pathogenesis, genetics, diagnosis and management of CHI. This diesease is a genetically heterogeneous disorder with both familial and sporadic variants and is biochemically characterized by an unregulated secretion of insulin from pancreatic beta cells in relation to the blood glucose concentration. To date, there are eight different genes described which lead to CHI. However, in 50% of patients the genetic mechanism is still unknown. The clinical presentation is heterogeneous with regard to age of onset, severity and manner of symptoms. This is explained by different pathogenetic mechanism resulting in inappropriate insulin secretion. An early and rapid diagnosis including initiation of an effective treatment is essential for preventing hypoglycaemic brain damage and neurological sequelae in affected children. Over the last years, substantial progress in diagnostic with 18F-L-dopa positron emission tomography for differentiating diffuse from focal disease and new laparoscopic surgery techniques has been made. In patients with diffuse form of CHI medical treatment with diazoxide, which is ineffective in patients with defects of the KATP channel, is the first line treatment. When medical treatment failed a near-total pancreatectomy has to be considered as a last resort. In patients with focal CHI a limited pancreatectomy can lead to complete cure of the disease. Patients should be managed by centres with a highly experienced team in diagnostic work-up and treatment of CHI.

Kaynakça

  • Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K. Hyperinsulinaemic hypoglycaemia. Arch Dis Child 2009; 94:450-457.
  • Collins JE, Leonard JV, Teale D, Marks V, Williams DM, hypoglycaemia in small for dates babies. Arch Dis Child 1990; 65:1118-1120. al. Hyperinslinaemic
  • Stanley CA, Baker L. Hyperinsulinism in infancy: diagnosus by demonstration of abnormal respone to fasting hypoglycaemia. Pediatrics 1976; 57:702-711.
  • Meissner T, Mayatepek E. Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr 2002; 161:6-20.
  • de Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C et al. Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr 2002; 161:37-48.
  • Menni F, de Lonlay P, Sevin C, Touati G, Peigné C, Barbier V et al. Neurologic outcomes of 90 neonates and hypoglycaemia. Pediatrics 2001; 107:476-9. hyperinsulinemic
  • Glaser B, Thornston P, Otonkoski T, Junien C. Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed 2000; 82:F79-F86 . 8. Sperling MA, Menon RK. Hyperinsulinemic
  • hypoglycaemia of infancy. Recent insights into ATP
  • sensitive potassium channels, sulfonylurea receptors,
  • molecular mechanisms and treatment. Endocrinol
  • Metab Clin North Am 1999; 28:698-708.
  • Otonkoski T, Ammala C, Huopio H, Cote GJ, Chapman J, Cosgrove, et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycaemia of infancy in Finland. Diabetes 1999; 48:408-415.
  • Mathew, PM, Young, JM, Abu-Osba, YK, Mulhern BD, Hammoudi S, Hamdan JA, et al. Persistent neonatal hyperinsulinism. Clin Pediatr (Phila) 1988; 11. Hussain K. Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of Infancy. Horm Res 2008; 69:2-13.
  • James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet 2009; 46:289-299. 13. Rahier J, Guiot Y, Sempoux C. Persistent hyperinsulinaemic hypoglycaemia of infancy: a hetergenous syndrome unrelated to nesidioblastosis. Arch Dis Child Fetal Neonatal Ed 2002; 82:F108-112.
  • Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, et al. An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes 2008;
  • de Lonlay P, Fournet JC, Raiher J, Gross-Morand MS, Poggi-Travert F, Foussier V, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycaemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997; 100:802-807.
  • Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycaemia of infancy. Sience 1995; 268:426-429.
  • Thomas PM, Ye Y, Lightner E. Mutation of the pancreatic istlet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycaemia of infancy. Hum Mol Genet 1996; 5:1813-1822.
  • Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000; 106:897-906. 19. Ashcroft FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 2005; 115:2047-2058.
  • Kassem SA, Ariel I, Thornton PS, Hussain K, Smith V, Lindley KJ, et al. p57 (KIP2) expression in normal islet cells and in hyperinsulinism of infancy. Diabetes 2001; 50:2763-2769.
  • Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 1998; 102:1286-1291.
  • Stanley CA. Hyperinsulinism / hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism. Mol Genet Metab 2004; 81;45-51.
  • Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998; 338:1352-1357.
  • MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay- Saudubray Debeney Hyperinsulinism/hyperammonemia JM, et al. in syndrome children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab 2001; 86:1782-1787.
  • Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998; 338:226 –230.
  • Matschinsky FM. Regulation of pancreatic -cell glucokinase: from basics to therapeutics. Diabetes 2002; 3:394-404.
  • Meissner T, Marquard J, Cobo-Vuilleumier N, Maringa M, Rodríguez-Bada P, García-Gimeno MA, et al. hyperinsulinism. Horm Metab Res 2009; 41:320-326. in glucokinase
  • Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman, et al. Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes 2009; 58:1419-1427.
  • Kassem S, Heyman M, Glaser B, Bhandari S, Motaghedi R, Maclaren NK, et al. Large islets, beta- cell proliferation, and a glucokinase mutation. N Engl J Med 2010; 362:1348-1350.
  • Froguel P , Zouali H , Vionnet N , Velho G , Vdaire M, Sun F, et al. Familial hyperglycemia due to mutations in glucokinase. N Engl J Med 1993; 328:697–702.
  • Njolstad PR , Sovic O , Cuesta-Munoz A , Bjorkhaug L , Massa O , Barbetti, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001; 344:1588–1592.
  • Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, et al. Physical exercise-induced hypoglycaemia monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet 2007; 81:467-474. silencing of
  • Meissner T, Otonkoski T, Feneberg R, Beinbrech B, Apostolidou S, Sipilä I, et al. Exercise induced hypoglycaemic hyperinsulinism. Arch Dis Child 2001;
  • Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E et al. Pysical exercise- induced hyperinsulinemic hypoglycaemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes. 2003; 2:199-204.
  • Meissner T, Friedmann B, Okun JG, Schwab MA, Otonkoski T, Bauer T,et al. Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinism. Horm Metab Res 2005; 7:690-694.
  • Hussain K, Clayton PT, Krywawych S, Chatziandreou I, Mills P, Ginbey DW, et al. Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. J Pediatr 2005; 146:706-708.
  • Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K. 3-Hydroxyacyl-coenzyme A dehydrogenase deficiency characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab 2009; 94:2221-2225.
  • Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, et al. Hyperinsulinism in short-chain deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 2001; 108:457-465.
  • Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njİlstad PR, et al. Familial hyperinsulinemic hypoglycaemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes 2004; 53:221-227.
  • Byrne MM, Sturis J, Fajans SS, Ortiz FJ, Stoltz A, Stoffel M, et al. Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. Diabetes 1995; 44:699-704.
  • Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, et al. Persistent hyperinsulinemic hypoglycaemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 2008; 57:1659-1663.
  • Fajans SS, Bell GI. Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A). Diabetologia 2007; 50:2600-2601.
  • Affourtit C, Brand MD. On the role of uncoupling protein-2 in pancreatic beta cells. Biochim Biophys Acta 2008; 1777:973-979.
  • González-Barroso MM, Giurgea I, Bouillaud F, Anedda A, Bellanné-Chantelot C, Hubert L, et al. Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One 2008; 3:e3850.
  • Meissner T, Wendel U, Burgard P, Schaetzle S, Mayatepek E. Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol. 2003; 149:43-51.
  • Aynsley-Green A, Hussain K, Hall J, Saudubray JM, Nihoul-Fékété C, De Lonlay-Debeney P, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed 2000; 82:F98-F107.
  • Huijmans JG, Duran M, de Klerk JB, Rovers MJ, Scholte HR. Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment. Pediatrics 2000; 106:596-600.
  • 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; 146:388-94.
  • Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, et al. Neurological aspects syndrome. Dev Med Child Neurol 2008; 50:945-949.
  • Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA. Protein-sensitive and fasting hypoglycaemia in children with the hyperinsulinism/ hyperammonemia syndrome. J Pediatr 2001; 138:383- 389.
  • Wolfsdorf JI, Sadeghi-Nejad A, Senior B. Ketonuria does not exclude hyperinsulinemic hypoglycaemia. Am J Dis Child 1984; 138:168-171.
  • Hussain K, Bryan J, Christesen HT, Brusgaard K, Aguilar-Bryan L. Serum glucagon counterregulatory hormonal response to hypoglycaemia is blunted in congenital hyperinsulinism. Diabetes 2005; 54:2946- 2951.
  • Hussain K, Hindmarsh P, Aynsley-Green A. Neonates with symptomatic hyperinsulinemic hypoglycaemia generate counterregulatory Endocrinol Metab 2003; 88:4342-4347. cortisol J hormonal responses. Clin
  • Cryer PE, Axelrod L, Grossman AB, Heller SR, Montori VM, Seaquist ER, et al. Evaluation and management of adult hypoglycemic disorders: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2009; 94:709-728.
  • Levitt Katz LE, Satin-Smith MS, Collett-Solberg P, Thornton PS, Baker L, Stanley CA et al. Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycaemia caused by hyperinsulinism. J Pediatr 1997; 131:193-199.
  • Santer R, Kinner M, Passarge M, Superti-Furga A, Mayatepek E, Meissner T, et al. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the syndrome. Hum Genet 2001; 108:66-71.
  • Mohnike K, Blankenstein O, Minn H, Mohnike W, Fuchtner F, Otonkoski T. [18F]-DOPA positron emission tomography for preoperative localization in congenital hyperinsulinism. Horm Res 2008; 70:65-72.
  • Hardy OT, Hernandez-Pampaloni M, Saffer JR, Suchi M, Ruchelli E, Zhuang H, et al. Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr 2007; 150:140- 145.
  • Mohnike K, Blankenstein O, Christesen HT, De Lonlay J, Hussain K, Koopmans KP, et al. Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism. Horm Res 2006; 66:40- 42.
  • Schäfer-Graf UM, Dupak J, Vogel M, Dudenhausen JW, Kjos SL, Buchanan TA, et al. Hyperinsulinism, neonatal obesity and placental immaturity in infants born to women with one abnormal glucose tolerance test value. J Perinat Med 1998; 26:27-36.
  • Fafoula O, Alkhayyat H, Hussain K. Prolonged hyperinsulinaemic hypoglycaemia in newborns with intrauterine growth retardation. Arch Dis Child Fetal Neonatal Ed 2006; 91:F467. 62. Collins JE, Leonard and
  • small-for-dates in with asphyxiated
  • hypoglycaemia. Lancet 1984; 2:311-313. infants
  • Brown G, Brown R, Hey E. Fetal hyperinsulinism in rhesus isoimmunization. Am J Obstet Gynecol 1978; 131:682-686.
  • Hoe FM, Thornton PS, Wanner LA, Steinkrauss L, Simmons RA, Stanley CA. Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism. J Pediatr 2006; 148:207-212.
  • Martinez Y, Martinez R. Clinical features in the Wiedemann-Beckwith syndrome. Clin Genet 1996; 50:272–274.
  • C F J Munns, J A Batch. Hyperinsulinism and Beckwith-Wiedemann syndrome. Arch Dis Child Fetal Neonatal Ed 2001; 84:F67–F69
  • Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, et al. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 2004; 74:715- 720.
  • Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, et al. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A 2004; 129:64-68.
  • Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000; 26:56-60.
  • Alexander S, Ramadan D, Alkhayyat H, Al-Sharkawi I, Backer KC, El-Sabban F, Hussain K. Costello syndrome and hyperinsulinemic hypoglycaemia. Am J Med Genet A 2005; 139:227-230.
  • Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119:19-31.
  • Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K et al. Hyperinsulinemic hypoglycaemia in a newborn infant with trisomy 13. Am J Med Genet A 2004; 129:321-322.
  • Alkhayyat H, Christesen HB, Steer J, Stewart H, Brusgaard K, Hussain K. Mosaic Turner syndrome and hyperinsulinaemic Endocrinol Metab 2006; 19:1451-1457. J Pediatr
  • Hennewig U, Hadzik B, Vogel M, Meissner T, Goecke T, Peters H et al. Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. J Hum Genet 2008; 53:573-577.
  • Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH. Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycaemia and islet cell hyperplasia. J Clin Endocrinol Metab 2005; 90:4371-4375. .
  • Baumann U, Preece MA, Green A, Kelly DA, McKiernan PJ. Hyperinsulinism in tyrosinaemia type I. J Inherit Metab Dis 2005; 28:131-135.
  • Grant CS. Insulinoma. Best Pract Res Clin Gastroenterol 2005; 19:783-798.
  • Hİjlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, et al. A novel syndrome of autosomal- dominant hyperinsulinemic hypoglycaemia linked to a mutation in the human insulin receptor gene. Diabetes 2004; 53:1592-1598.
  • Giurgea I, Ulinski T, Touati G, Sempoux C, Mochel F, Brunelle F, et al. Factitious hyperinsulinism leading to pancreatectomy: syndrome by proxy. Pediatrics 2005; 116:e145-148. forms of Munchausen
  • Bruining GJ. Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Curr Opin Pediatr 1990; 2:758-765.
  • Touati G, Poggi-Travert F, Ogier de Baulny H, Rahier J, Brunelle F, Nihoul-Fekete C et al. Long-term treatment hypoglycaemia retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr 1998;
  • 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.
  • Glaser B, Landau H, Smilovici A, Nesher R. Persistent hyperinsulinaemic hypoglycaemia of infancy: long- term treatment with the somatostatin analogue Sandostatin. Clin Endocrinol 1989;31: 71-80.
  • Baş F, Darendeliler F, Demirkol D, Bundak R, Saka N, Günöz H. Successful treatment with calcium channel blocker hyperinsulinemic hypoglycaemia of infancy. J Pediatr Endocrinol Metab 1999; 12:873-878. neonatal
  • Shanbag P, Pathak A, Vaidya M, Shahid SK. Persistent hyperinsulinemic hypoglycaemia of infancy- -successful treatment with nifedipine. Indian J Pediatr 2002; 69:271-272.
  • Eichmann D, Hufnagel M, Quick P, Santer R. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine. Eur J Pediatr 1999; 158:204-206.
  • De Vroede M, Bax NM, Brusgaard K, Dunne MJ, Groenendaal F. Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy. Pediatrics 2004; 114:520-522.
  • Bax KN, van der Zee DC. The laparoscopic approach toward hyperinsulinism in children. Semin Pediatr Surg 2007; 16:245-51.
  • Fékété CN, de Lonlay P, Jaubert F, Rahier J, Brunelle F, Saudubray JM. The surgical management of congenital hyperinsulinemic hypoglycaemia in infancy. J Pediatr Surg 2004; 39:267-269.
  • Greene SA, Aynsley-Green A, Soltesz G, Baum JD. Management of secondary diabetes mellitus after total pancreatectomy in infancy. Arch Dis Child 1984; 59:356-359.
Yıl 2011, Cilt: 3 Sayı: 1, 1 - 15, 01.01.2011

Öz

Kaynakça

  • Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K. Hyperinsulinaemic hypoglycaemia. Arch Dis Child 2009; 94:450-457.
  • Collins JE, Leonard JV, Teale D, Marks V, Williams DM, hypoglycaemia in small for dates babies. Arch Dis Child 1990; 65:1118-1120. al. Hyperinslinaemic
  • Stanley CA, Baker L. Hyperinsulinism in infancy: diagnosus by demonstration of abnormal respone to fasting hypoglycaemia. Pediatrics 1976; 57:702-711.
  • Meissner T, Mayatepek E. Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr 2002; 161:6-20.
  • de Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C et al. Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr 2002; 161:37-48.
  • Menni F, de Lonlay P, Sevin C, Touati G, Peigné C, Barbier V et al. Neurologic outcomes of 90 neonates and hypoglycaemia. Pediatrics 2001; 107:476-9. hyperinsulinemic
  • Glaser B, Thornston P, Otonkoski T, Junien C. Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed 2000; 82:F79-F86 . 8. Sperling MA, Menon RK. Hyperinsulinemic
  • hypoglycaemia of infancy. Recent insights into ATP
  • sensitive potassium channels, sulfonylurea receptors,
  • molecular mechanisms and treatment. Endocrinol
  • Metab Clin North Am 1999; 28:698-708.
  • Otonkoski T, Ammala C, Huopio H, Cote GJ, Chapman J, Cosgrove, et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycaemia of infancy in Finland. Diabetes 1999; 48:408-415.
  • Mathew, PM, Young, JM, Abu-Osba, YK, Mulhern BD, Hammoudi S, Hamdan JA, et al. Persistent neonatal hyperinsulinism. Clin Pediatr (Phila) 1988; 11. Hussain K. Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia of Infancy. Horm Res 2008; 69:2-13.
  • James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet 2009; 46:289-299. 13. Rahier J, Guiot Y, Sempoux C. Persistent hyperinsulinaemic hypoglycaemia of infancy: a hetergenous syndrome unrelated to nesidioblastosis. Arch Dis Child Fetal Neonatal Ed 2002; 82:F108-112.
  • Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, et al. An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes 2008;
  • de Lonlay P, Fournet JC, Raiher J, Gross-Morand MS, Poggi-Travert F, Foussier V, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycaemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997; 100:802-807.
  • Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycaemia of infancy. Sience 1995; 268:426-429.
  • Thomas PM, Ye Y, Lightner E. Mutation of the pancreatic istlet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycaemia of infancy. Hum Mol Genet 1996; 5:1813-1822.
  • Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000; 106:897-906. 19. Ashcroft FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 2005; 115:2047-2058.
  • Kassem SA, Ariel I, Thornton PS, Hussain K, Smith V, Lindley KJ, et al. p57 (KIP2) expression in normal islet cells and in hyperinsulinism of infancy. Diabetes 2001; 50:2763-2769.
  • Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 1998; 102:1286-1291.
  • Stanley CA. Hyperinsulinism / hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism. Mol Genet Metab 2004; 81;45-51.
  • Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998; 338:1352-1357.
  • MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay- Saudubray Debeney Hyperinsulinism/hyperammonemia JM, et al. in syndrome children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab 2001; 86:1782-1787.
  • Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998; 338:226 –230.
  • Matschinsky FM. Regulation of pancreatic -cell glucokinase: from basics to therapeutics. Diabetes 2002; 3:394-404.
  • Meissner T, Marquard J, Cobo-Vuilleumier N, Maringa M, Rodríguez-Bada P, García-Gimeno MA, et al. hyperinsulinism. Horm Metab Res 2009; 41:320-326. in glucokinase
  • Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman, et al. Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes 2009; 58:1419-1427.
  • Kassem S, Heyman M, Glaser B, Bhandari S, Motaghedi R, Maclaren NK, et al. Large islets, beta- cell proliferation, and a glucokinase mutation. N Engl J Med 2010; 362:1348-1350.
  • Froguel P , Zouali H , Vionnet N , Velho G , Vdaire M, Sun F, et al. Familial hyperglycemia due to mutations in glucokinase. N Engl J Med 1993; 328:697–702.
  • Njolstad PR , Sovic O , Cuesta-Munoz A , Bjorkhaug L , Massa O , Barbetti, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001; 344:1588–1592.
  • Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, et al. Physical exercise-induced hypoglycaemia monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet 2007; 81:467-474. silencing of
  • Meissner T, Otonkoski T, Feneberg R, Beinbrech B, Apostolidou S, Sipilä I, et al. Exercise induced hypoglycaemic hyperinsulinism. Arch Dis Child 2001;
  • Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E et al. Pysical exercise- induced hyperinsulinemic hypoglycaemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes. 2003; 2:199-204.
  • Meissner T, Friedmann B, Okun JG, Schwab MA, Otonkoski T, Bauer T,et al. Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinism. Horm Metab Res 2005; 7:690-694.
  • Hussain K, Clayton PT, Krywawych S, Chatziandreou I, Mills P, Ginbey DW, et al. Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. J Pediatr 2005; 146:706-708.
  • Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K. 3-Hydroxyacyl-coenzyme A dehydrogenase deficiency characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab 2009; 94:2221-2225.
  • Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, et al. Hyperinsulinism in short-chain deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 2001; 108:457-465.
  • Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njİlstad PR, et al. Familial hyperinsulinemic hypoglycaemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes 2004; 53:221-227.
  • Byrne MM, Sturis J, Fajans SS, Ortiz FJ, Stoltz A, Stoffel M, et al. Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. Diabetes 1995; 44:699-704.
  • Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, et al. Persistent hyperinsulinemic hypoglycaemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes 2008; 57:1659-1663.
  • Fajans SS, Bell GI. Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A). Diabetologia 2007; 50:2600-2601.
  • Affourtit C, Brand MD. On the role of uncoupling protein-2 in pancreatic beta cells. Biochim Biophys Acta 2008; 1777:973-979.
  • González-Barroso MM, Giurgea I, Bouillaud F, Anedda A, Bellanné-Chantelot C, Hubert L, et al. Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One 2008; 3:e3850.
  • Meissner T, Wendel U, Burgard P, Schaetzle S, Mayatepek E. Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol. 2003; 149:43-51.
  • Aynsley-Green A, Hussain K, Hall J, Saudubray JM, Nihoul-Fékété C, De Lonlay-Debeney P, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed 2000; 82:F98-F107.
  • Huijmans JG, Duran M, de Klerk JB, Rovers MJ, Scholte HR. Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment. Pediatrics 2000; 106:596-600.
  • 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; 146:388-94.
  • Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, et al. Neurological aspects syndrome. Dev Med Child Neurol 2008; 50:945-949.
  • Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA. Protein-sensitive and fasting hypoglycaemia in children with the hyperinsulinism/ hyperammonemia syndrome. J Pediatr 2001; 138:383- 389.
  • Wolfsdorf JI, Sadeghi-Nejad A, Senior B. Ketonuria does not exclude hyperinsulinemic hypoglycaemia. Am J Dis Child 1984; 138:168-171.
  • Hussain K, Bryan J, Christesen HT, Brusgaard K, Aguilar-Bryan L. Serum glucagon counterregulatory hormonal response to hypoglycaemia is blunted in congenital hyperinsulinism. Diabetes 2005; 54:2946- 2951.
  • Hussain K, Hindmarsh P, Aynsley-Green A. Neonates with symptomatic hyperinsulinemic hypoglycaemia generate counterregulatory Endocrinol Metab 2003; 88:4342-4347. cortisol J hormonal responses. Clin
  • Cryer PE, Axelrod L, Grossman AB, Heller SR, Montori VM, Seaquist ER, et al. Evaluation and management of adult hypoglycemic disorders: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2009; 94:709-728.
  • Levitt Katz LE, Satin-Smith MS, Collett-Solberg P, Thornton PS, Baker L, Stanley CA et al. Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycaemia caused by hyperinsulinism. J Pediatr 1997; 131:193-199.
  • Santer R, Kinner M, Passarge M, Superti-Furga A, Mayatepek E, Meissner T, et al. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the syndrome. Hum Genet 2001; 108:66-71.
  • Mohnike K, Blankenstein O, Minn H, Mohnike W, Fuchtner F, Otonkoski T. [18F]-DOPA positron emission tomography for preoperative localization in congenital hyperinsulinism. Horm Res 2008; 70:65-72.
  • Hardy OT, Hernandez-Pampaloni M, Saffer JR, Suchi M, Ruchelli E, Zhuang H, et al. Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr 2007; 150:140- 145.
  • Mohnike K, Blankenstein O, Christesen HT, De Lonlay J, Hussain K, Koopmans KP, et al. Proposal for a standardized protocol for 18F-DOPA-PET (PET/CT) in congenital hyperinsulinism. Horm Res 2006; 66:40- 42.
  • Schäfer-Graf UM, Dupak J, Vogel M, Dudenhausen JW, Kjos SL, Buchanan TA, et al. Hyperinsulinism, neonatal obesity and placental immaturity in infants born to women with one abnormal glucose tolerance test value. J Perinat Med 1998; 26:27-36.
  • Fafoula O, Alkhayyat H, Hussain K. Prolonged hyperinsulinaemic hypoglycaemia in newborns with intrauterine growth retardation. Arch Dis Child Fetal Neonatal Ed 2006; 91:F467. 62. Collins JE, Leonard and
  • small-for-dates in with asphyxiated
  • hypoglycaemia. Lancet 1984; 2:311-313. infants
  • Brown G, Brown R, Hey E. Fetal hyperinsulinism in rhesus isoimmunization. Am J Obstet Gynecol 1978; 131:682-686.
  • Hoe FM, Thornton PS, Wanner LA, Steinkrauss L, Simmons RA, Stanley CA. Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism. J Pediatr 2006; 148:207-212.
  • Martinez Y, Martinez R. Clinical features in the Wiedemann-Beckwith syndrome. Clin Genet 1996; 50:272–274.
  • C F J Munns, J A Batch. Hyperinsulinism and Beckwith-Wiedemann syndrome. Arch Dis Child Fetal Neonatal Ed 2001; 84:F67–F69
  • Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, et al. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 2004; 74:715- 720.
  • Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, et al. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A 2004; 129:64-68.
  • Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000; 26:56-60.
  • Alexander S, Ramadan D, Alkhayyat H, Al-Sharkawi I, Backer KC, El-Sabban F, Hussain K. Costello syndrome and hyperinsulinemic hypoglycaemia. Am J Med Genet A 2005; 139:227-230.
  • Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119:19-31.
  • Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K et al. Hyperinsulinemic hypoglycaemia in a newborn infant with trisomy 13. Am J Med Genet A 2004; 129:321-322.
  • Alkhayyat H, Christesen HB, Steer J, Stewart H, Brusgaard K, Hussain K. Mosaic Turner syndrome and hyperinsulinaemic Endocrinol Metab 2006; 19:1451-1457. J Pediatr
  • Hennewig U, Hadzik B, Vogel M, Meissner T, Goecke T, Peters H et al. Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. J Hum Genet 2008; 53:573-577.
  • Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH. Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycaemia and islet cell hyperplasia. J Clin Endocrinol Metab 2005; 90:4371-4375. .
  • Baumann U, Preece MA, Green A, Kelly DA, McKiernan PJ. Hyperinsulinism in tyrosinaemia type I. J Inherit Metab Dis 2005; 28:131-135.
  • Grant CS. Insulinoma. Best Pract Res Clin Gastroenterol 2005; 19:783-798.
  • Hİjlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, et al. A novel syndrome of autosomal- dominant hyperinsulinemic hypoglycaemia linked to a mutation in the human insulin receptor gene. Diabetes 2004; 53:1592-1598.
  • Giurgea I, Ulinski T, Touati G, Sempoux C, Mochel F, Brunelle F, et al. Factitious hyperinsulinism leading to pancreatectomy: syndrome by proxy. Pediatrics 2005; 116:e145-148. forms of Munchausen
  • Bruining GJ. Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Curr Opin Pediatr 1990; 2:758-765.
  • Touati G, Poggi-Travert F, Ogier de Baulny H, Rahier J, Brunelle F, Nihoul-Fekete C et al. Long-term treatment hypoglycaemia retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr 1998;
  • 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.
  • Glaser B, Landau H, Smilovici A, Nesher R. Persistent hyperinsulinaemic hypoglycaemia of infancy: long- term treatment with the somatostatin analogue Sandostatin. Clin Endocrinol 1989;31: 71-80.
  • Baş F, Darendeliler F, Demirkol D, Bundak R, Saka N, Günöz H. Successful treatment with calcium channel blocker hyperinsulinemic hypoglycaemia of infancy. J Pediatr Endocrinol Metab 1999; 12:873-878. neonatal
  • Shanbag P, Pathak A, Vaidya M, Shahid SK. Persistent hyperinsulinemic hypoglycaemia of infancy- -successful treatment with nifedipine. Indian J Pediatr 2002; 69:271-272.
  • Eichmann D, Hufnagel M, Quick P, Santer R. Treatment of hyperinsulinaemic hypoglycaemia with nifedipine. Eur J Pediatr 1999; 158:204-206.
  • De Vroede M, Bax NM, Brusgaard K, Dunne MJ, Groenendaal F. Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy. Pediatrics 2004; 114:520-522.
  • Bax KN, van der Zee DC. The laparoscopic approach toward hyperinsulinism in children. Semin Pediatr Surg 2007; 16:245-51.
  • Fékété CN, de Lonlay P, Jaubert F, Rahier J, Brunelle F, Saudubray JM. The surgical management of congenital hyperinsulinemic hypoglycaemia in infancy. J Pediatr Surg 2004; 39:267-269.
  • Greene SA, Aynsley-Green A, Soltesz G, Baum JD. Management of secondary diabetes mellitus after total pancreatectomy in infancy. Arch Dis Child 1984; 59:356-359.
Toplam 91 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Reviews
Yazarlar

Jan Marquard

Ertan Mayatepek Bu kişi benim

Thomas Meıssner Bu kişi benim

Yayımlanma Tarihi 1 Ocak 2011
Yayımlandığı Sayı Yıl 2011 Cilt: 3 Sayı: 1

Kaynak Göster

APA Marquard, J., Mayatepek, E., & Meıssner, T. (2011). Congenital Hyperinsulinism: Overview and Clinical Update. Journal of Pediatric Sciences, 3(1), 1-15. https://doi.org/10.17334/jps.89868
AMA Marquard J, Mayatepek E, Meıssner T. Congenital Hyperinsulinism: Overview and Clinical Update. Journal of Pediatric Sciences. Ocak 2011;3(1):1-15. doi:10.17334/jps.89868
Chicago Marquard, Jan, Ertan Mayatepek, ve Thomas Meıssner. “Congenital Hyperinsulinism: Overview and Clinical Update”. Journal of Pediatric Sciences 3, sy. 1 (Ocak 2011): 1-15. https://doi.org/10.17334/jps.89868.
EndNote Marquard J, Mayatepek E, Meıssner T (01 Ocak 2011) Congenital Hyperinsulinism: Overview and Clinical Update. Journal of Pediatric Sciences 3 1 1–15.
IEEE J. Marquard, E. Mayatepek, ve T. Meıssner, “Congenital Hyperinsulinism: Overview and Clinical Update”, Journal of Pediatric Sciences, c. 3, sy. 1, ss. 1–15, 2011, doi: 10.17334/jps.89868.
ISNAD Marquard, Jan vd. “Congenital Hyperinsulinism: Overview and Clinical Update”. Journal of Pediatric Sciences 3/1 (Ocak 2011), 1-15. https://doi.org/10.17334/jps.89868.
JAMA Marquard J, Mayatepek E, Meıssner T. Congenital Hyperinsulinism: Overview and Clinical Update. Journal of Pediatric Sciences. 2011;3:1–15.
MLA Marquard, Jan vd. “Congenital Hyperinsulinism: Overview and Clinical Update”. Journal of Pediatric Sciences, c. 3, sy. 1, 2011, ss. 1-15, doi:10.17334/jps.89868.
Vancouver Marquard J, Mayatepek E, Meıssner T. Congenital Hyperinsulinism: Overview and Clinical Update. Journal of Pediatric Sciences. 2011;3(1):1-15.