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Volumn 66, Issue 6, 2006, Pages 289-296

Molecular mechanisms of neonatal hyperinsulinism

Author keywords

Diffuse insulin hypersecretion; Focal adenomatous hyperplasia; Hypoglycaemia; Neonatal hyperinsulinism, molecular mechanisms

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; BUTYRYL COENZYME A DEHYDROGENASE; FATTY ACID; GLUCOKINASE; GLUTAMATE DEHYDROGENASE; INSULIN RECEPTOR; INWARDLY RECTIFYING POTASSIUM CHANNEL; PROTEIN SUBUNIT; SULFONYLUREA RECEPTOR;

EID: 33751286297     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000095938     Document Type: Short Survey
Times cited : (52)

References (55)
  • 2
    • 0017617191 scopus 로고
    • Neonatal and infantile hypoglycemia due to insulin excess: New aspects of diagnosis and surgical management
    • Thomas CG Jr, 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.
    • (1977) Ann Surg , vol.185 , pp. 505-517
    • Thomas Jr., C.G.1    Underwood, L.E.2    Carney, C.N.3    Dolcourt, J.L.4    Whitt, J.J.5
  • 3
    • 0025233448 scopus 로고
    • Hypoglycemia in infancy: The need for a rational definition
    • A Ciba Foundation discussion meeting
    • Cornblath M, Schwartz R, Aynsley-Green A, Lloyd JK: Hypoglycemia in infancy: the need for a rational definition. A Ciba Foundation discussion meeting. Pediatrics 1990;85:834-837.
    • (1990) Pediatrics , vol.85 , pp. 834-837
    • Cornblath, M.1    Schwartz, R.2    Aynsley-Green, A.3    Lloyd, J.K.4
  • 12
    • 14844302859 scopus 로고    scopus 로고
    • Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations
    • 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.
    • (2005) J Pediatr , vol.146 , pp. 388-394
    • Raizen, D.M.1    Brooks-Kayal, A.2    Steinkrauss, L.3    Tennekoon, G.I.4    Stanley, C.A.5    Kelly, A.6
  • 13
    • 0025982490 scopus 로고
    • Current status of pancreatectomy for persistent idiopathic neonatal hypoglycemia due to islet cell dysplasia
    • Filler RM, Weinberg MJ, Cutz E, Wesson DE, Ehrlich RM: Current status of pancreatectomy for persistent idiopathic neonatal hypoglycemia due to islet cell dysplasia. Prog Pediatr Surg 1991;26:60-75.
    • (1991) Prog Pediatr Surg , vol.26 , pp. 60-75
    • Filler, R.M.1    Weinberg, M.J.2    Cutz, E.3    Wesson, D.E.4    Ehrlich, R.M.5
  • 15
    • 0036136040 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in congenital hyperinsulinism
    • Meissner T, Mayatepek E: Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr 2002;161:6-20.
    • (2002) Eur J Pediatr , vol.161 , pp. 6-20
    • Meissner, T.1    Mayatepek, E.2
  • 16
    • 0033496629 scopus 로고    scopus 로고
    • Focal and diffuse β-cell changes in persistent hyperinsulinemic hypoglycemia of infancy
    • Kloppel G, Reinecke-Luthge A, Koschoreck F: Focal and diffuse β-cell changes in persistent hyperinsulinemic hypoglycemia of infancy. Endocr Pathol 1999;10:299-304.
    • (1999) Endocr Pathol , vol.10 , pp. 299-304
    • Kloppel, G.1    Reinecke-Luthge, A.2    Koschoreck, F.3
  • 18
    • 0018851716 scopus 로고
    • Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy
    • Jaffe R, Hashida Y, Yunis EJ: Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy. Lab Invest 1980;42:356-365.
    • (1980) Lab Invest , vol.42 , pp. 356-365
    • Jaffe, R.1    Hashida, Y.2    Yunis, E.J.3
  • 19
    • 0021320297 scopus 로고
    • The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: Deficiency of pancreatic D cells or hyperactivity of B cells?
    • Rahier J, Falt K, Muntefering 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.
    • (1984) Diabetologia , vol.26 , pp. 282-289
    • Rahier, J.1    Falt, K.2    Muntefering, H.3    Becker, K.4    Gepts, W.5    Falkmer, S.6
  • 27
    • 0031856155 scopus 로고    scopus 로고
    • Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: A retrospective review of 77 cases and analysis of efficacy-predicting criteria
    • 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.
    • (1998) Eur J Pediatr , vol.157 , pp. 628-633
    • Touati, G.1    Poggi-Travert, F.2    Ogier De Baulny, H.3    Rahier, J.4    Brunelle, F.5    Nihoul-Fekete, C.6    Czernichow, P.7    Saudubray, J.M.8
  • 33
    • 33645221787 scopus 로고    scopus 로고
    • Mutations in the genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
    • Gloyn AL, Siddiqui J, Ellard S: Mutations in the genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2006;27:220-231.
    • (2006) Hum Mutat , vol.27 , pp. 220-231
    • Gloyn, A.L.1    Siddiqui, J.2    Ellard, S.3
  • 36
    • 0036833473 scopus 로고    scopus 로고
    • Advances in diagnosis and treatment of hyperinsulinism in infants and children
    • Stanley CA: Advances in diagnosis and treatment of hyperinsulinism in infants and children. J Clin Endocrinol Metab 2002;87:4857-4859.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4857-4859
    • Stanley, C.A.1
  • 38
    • 0024339361 scopus 로고
    • Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia
    • Goossens A, Gepts W, Saudubray JM, Bonnefont JP, Nihoul F, Heitz PU, Kloppel G: Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol 1989;13:766-775.
    • (1989) Am J Surg Pathol , vol.13 , pp. 766-775
    • Goossens, A.1    Gepts, W.2    Saudubray, J.M.3    Bonnefont, J.P.4    Nihoul, F.5    Heitz, P.U.6    Kloppel, G.7
  • 39
    • 0034119682 scopus 로고    scopus 로고
    • Persistent hyperinsulinaemic hypoglycaemia of infancy: A heterogeneous syndrome unrelated to nesidioblastosis
    • Rahier J, Guiot Y, Sempoux C: Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis. Arch Dis Child Fetal Neonatal Ed 2000;82:F108-F112.
    • (2000) Arch Dis Child Fetal Neonatal Ed , vol.82
    • Rahier, J.1    Guiot, Y.2    Sempoux, C.3
  • 40
    • 0035122262 scopus 로고    scopus 로고
    • The focal form of persistent hyperinsulinemic hypoglycemia of infancy
    • Sempoux C, Guiot Y, Rahier J: The focal form of persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 2001;50(suppl 1):S182-S183.
    • (2001) Diabetes , vol.50 , Issue.SUPPL. 1
    • Sempoux, C.1    Guiot, Y.2    Rahier, J.3
  • 43
    • 0034029974 scopus 로고    scopus 로고
    • Molecular basis and characterization of the hyperinsulinism/ hyperammonaemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene
    • HI/HA contributing investigators
    • Stanley CA, Fang J, Kutyna K, Hsu BY, Ming JE, Glaser B, Poncz M: Molecular basis and characterization of the hyperinsulinism/hyperammonaemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA contributing investigators. Diabetes 2000;49:667-673.
    • (2000) Diabetes , vol.49 , pp. 667-673
    • Stanley, C.A.1    Fang, J.2    Kutyna, K.3    Hsu, B.Y.4    Ming, J.E.5    Glaser, B.6    Poncz, M.7
  • 44
    • 2542610014 scopus 로고    scopus 로고
    • A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene
    • Hojlund 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.
    • (2004) Diabetes , vol.53 , pp. 1592-1598
    • Hojlund, K.1    Hansen, T.2    Lajer, M.3    Henriksen, J.E.4    Levin, K.5    Lindholm, J.6    Pedersen, O.7    Beck-Nielsen, H.8
  • 45
    • 0037221769 scopus 로고    scopus 로고
    • Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release
    • Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E, Kere J, Sipila I: Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes 2003;52:199-204.
    • (2003) Diabetes , vol.52 , pp. 199-204
    • Otonkoski, T.1    Kaminen, N.2    Ustinov, J.3    Lapatto, R.4    Meissner, T.5    Mayatepek, E.6    Kere, J.7    Sipila, I.8
  • 46
    • 0036182963 scopus 로고    scopus 로고
    • Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
    • DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP: Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002;70:604-611.
    • (2002) Am J Hum Genet , vol.70 , pp. 604-611
    • DeBaun, M.R.1    Niemitz, E.L.2    McNeil, D.E.3    Brandenburg, S.A.4    Lee, M.P.5    Feinberg, A.P.6
  • 50
    • 0027420362 scopus 로고
    • Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
    • 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;5:143-150.
    • (1993) Nat Genet , vol.5 , pp. 143-150
    • Weksberg, R.1    Shen, D.R.2    Fei, Y.L.3    Song, Q.L.4    Squire, J.5
  • 51
    • 0023011534 scopus 로고
    • An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13-pter: Correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome
    • Okano Y, Osasa Y, Yamamoto H, Hase Y, Tsuruhara T, Fujita H: An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13-pter: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome. Jinrui Idengaku Zasshi 1986;31:365-372.
    • (1986) Jinrui Idengaku Zasshi , vol.31 , pp. 365-372
    • Okano, Y.1    Osasa, Y.2    Yamamoto, H.3    Hase, Y.4    Tsuruhara, T.5    Fujita, H.6
  • 54
    • 0022514590 scopus 로고
    • Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome
    • Spritz RA, Mager D, Pauli RM, Laxova R: Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome. Am J Hum Genet 1986;39:265-273.
    • (1986) Am J Hum Genet , vol.39 , pp. 265-273
    • Spritz, R.A.1    Mager, D.2    Pauli, R.M.3    Laxova, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.