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Volumn 82, Issue 2, 2000, Pages

Genetics of neonatal hyperinsulinism

Author keywords

ATP sensitive potassium channel; Hyperinsulinism; Hypoglycaemia; Sulphonylurea receptor

Indexed keywords

GLUCOKINASE; GLUTAMATE DEHYDROGENASE; INSULIN; POTASSIUM CHANNEL;

EID: 0034104609     PISSN: 13592998     EISSN: 14682052     Source Type: Journal    
DOI: 10.1136/fn.82.2.f79     Document Type: Article
Times cited : (197)

References (51)
  • 1
    • 0344629350 scopus 로고    scopus 로고
    • A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland
    • 1 Otonkoski T, Ammala C, Huopio H, et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes 1999;48:408-15.
    • (1999) Diabetes , vol.48 , pp. 408-415
    • Otonkoski, T.1    Ammala, C.2    Huopio, H.3
  • 2
    • 0025145330 scopus 로고
    • Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus
    • 2 Bruining GJ. Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Curr Opin Pediatr 1990;2:758-65.
    • (1990) Curr Opin Pediatr , vol.2 , pp. 758-765
    • Bruining, G.J.1
  • 4
    • 0030050233 scopus 로고    scopus 로고
    • Endosulfine, endogenous ligand for the sulphonylurea receptor: Isolation from porcine brain and partial structural determination of the alpha form
    • 4 Virsolvy-Vergine A, Salazar G, Sillard R, Denoroy L, Mutt V, Bataille D. Endosulfine, endogenous ligand for the sulphonylurea receptor: isolation from porcine brain and partial structural determination of the alpha form. Diabetologia 1996;39:135-41.
    • (1996) Diabetologia , vol.39 , pp. 135-141
    • Virsolvy-Vergine, A.1    Salazar, G.2    Sillard, R.3    Denoroy, L.4    Mutt, V.5    Bataille, D.6
  • 5
    • 0032493434 scopus 로고    scopus 로고
    • Human alpha-endosulfine, a possible regulator of sulfonylurea-sensitive KATP channel: Molecular cloning, expression and biological properties
    • 5 Heron L, Virsolvy A, Peyrollier K, et al. Human alpha-endosulfine, a possible regulator of sulfonylurea-sensitive KATP channel: molecular cloning, expression and biological properties. Proc Natl Acad Sci U S A 1998;95:8387-91.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 8387-8391
    • Heron, L.1    Virsolvy, A.2    Peyrollier, K.3
  • 6
    • 0017164828 scopus 로고
    • Idiopathic hypoglycaemia in sibs with morphological evidence of nesidioblastosis of the pancreas
    • 6 Woo D, Scopes JW, Polak JM. Idiopathic hypoglycaemia in sibs with morphological evidence of nesidioblastosis of the pancreas. Arch Dis Child 1976;51:528-31.
    • (1976) Arch Dis Child , vol.51 , pp. 528-531
    • Woo, D.1    Scopes, J.W.2    Polak, J.M.3
  • 7
    • 0024843732 scopus 로고
    • Familial hyperinsulinism with nesidioblastosis of the pancreas: Further evidence for autosomal recessive inheritance
    • 7 Moreno LA, Turck D, Gottrand F, Fabre M, Manouvrier HS, Farriaux JP. Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance. Am J Med Genet 1989;34:584-6.
    • (1989) Am J Med Genet , vol.34 , pp. 584-586
    • Moreno, L.A.1    Turck, D.2    Gottrand, F.3    Fabre, M.4    Manouvrier, H.S.5    Farriaux, J.P.6
  • 10
    • 0018361813 scopus 로고
    • Familial nesidioblastosis: Severe neonatal hypoglycemia in two families
    • 10 Schwartz SS, Rich BH, Lucky AW, et al. Familial nesidioblastosis: severe neonatal hypoglycemia in two families. Pediatrics 1979;95:44-53.
    • (1979) Pediatrics , vol.95 , pp. 44-53
    • Schwartz, S.S.1    Rich, B.H.2    Lucky, A.W.3
  • 11
    • 0021320297 scopus 로고
    • The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: Deficiency of pancreatic D cells or hyperactivity of B cells?
    • 11 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;26:282-9.
    • (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
  • 12
    • 0026056496 scopus 로고
    • Familial hyperinsulinism: Successful conservative management
    • 12 Horev Z, Ipp M, Levey P, Daneman D. Familial hyperinsulinism: successful conservative management. J Pediatr 1991;119:717-20.
    • (1991) J Pediatr , vol.119 , pp. 717-720
    • Horev, Z.1    Ipp, M.2    Levey, P.3    Daneman, D.4
  • 13
    • 0019449146 scopus 로고
    • Immunohistochemical, morphometric, and clinical studies of the pancreatic islets in infants with persistent neonatal hypoglycemia of familial type with hyperinsulinism and nesidioblastosis
    • 13 Falkmer S, Sovik O, Vidnes J. Immunohistochemical, morphometric, and clinical studies of the pancreatic islets in infants with persistent neonatal hypoglycemia of familial type with hyperinsulinism and nesidioblastosis. Acta Biologica et Medica Germanica 1981;40:39-54.
    • (1981) Acta Biologica et Medica Germanica , vol.40 , pp. 39-54
    • Falkmer, S.1    Sovik, O.2    Vidnes, J.3
  • 15
    • 0025114228 scopus 로고
    • Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): Autosomal recessive inheritance in 7 pedigrees
    • 15 Glaser B, Phillip M, Carmi R, Lieberman E, Landau H. Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees. Am J Med Genet 1990;37:511-15.
    • (1990) Am J Med Genet , vol.37 , pp. 511-515
    • Glaser, B.1    Phillip, M.2    Carmi, R.3    Lieberman, E.4    Landau, H.5
  • 16
    • 0026053121 scopus 로고
    • Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder
    • 16 Thornton PS, Sumner AE, Ruchelli ED, Spielman RS, Baker L, Stanley CA. Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. J Pediatr 1991;119:721-4.
    • (1991) J Pediatr , vol.119 , pp. 721-724
    • Thornton, P.S.1    Sumner, A.E.2    Ruchelli, E.D.3    Spielman, R.S.4    Baker, L.5    Stanley, C.A.6
  • 17
    • 0028236583 scopus 로고
    • Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene
    • 17 Glaser B, Chiu KC, Anker R, et al. Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nat Genet 1994;7:185-8.
    • (1994) Nat Genet , vol.7 , pp. 185-188
    • Glaser, B.1    Chiu, K.C.2    Anker, R.3
  • 18
    • 0028801579 scopus 로고
    • Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy
    • 18 Thomas PM, Cote GJ, Hallman DM, Mathew PM. Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. Am J Hum Genet 1995;56:416-21.
    • (1995) Am J Hum Genet , vol.56 , pp. 416-421
    • Thomas, P.M.1    Cote, G.J.2    Hallman, D.M.3    Mathew, P.M.4
  • 19
    • 0029024314 scopus 로고
    • Cloning of the beta cell high-affinity sulfonylurea receptor: A regulator of insulin secretion
    • 19 Aguilar-Bryan L, Nichols CG, Wechsler SW, et al. Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science 1995;268:423-6.
    • (1995) Science , vol.268 , pp. 423-426
    • Aguilar-Bryan, L.1    Nichols, C.G.2    Wechsler, S.W.3
  • 20
    • 0029021696 scopus 로고
    • Mutations in the sulfonylurea receptor gene in familial hyperinsulinemic hypoglycemia of infancy
    • 20 Thomas PM, Cote GJ, Wohllk N, et al. Mutations in the sulfonylurea receptor gene in familial hyperinsulinemic hypoglycemia of infancy. Science 1995;268:426-9.
    • (1995) Science , vol.268 , pp. 426-429
    • Thomas, P.M.1    Cote, G.J.2    Wohllk, N.3
  • 21
    • 0028972501 scopus 로고
    • ATP: An inward rectifier subunit plus the sulfonylurea receptor
    • ATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 1995;270:1166-70.
    • (1995) Science , vol.270 , pp. 1166-1170
    • Inagaki, N.1    Gonoi, T.2    Clement J.P. IV3
  • 22
    • 0031041271 scopus 로고    scopus 로고
    • Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor
    • 22 Dunne MJ, Kane C, Shepherd RM, et al. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 1997;336:703-6.
    • (1997) N Engl J Med , vol.336 , pp. 703-706
    • Dunne, M.J.1    Kane, C.2    Shepherd, R.M.3
  • 23
    • 0029036747 scopus 로고
    • Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews
    • 23 Glaser B, Chiu KC, Liu L, et al. Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. Hum Mol Genet 1995;4:879-86.
    • (1995) Hum Mol Genet , vol.4 , pp. 879-886
    • Glaser, B.1    Chiu, K.C.2    Liu, L.3
  • 24
    • 0029836983 scopus 로고    scopus 로고
    • IR6.2 also leads to familial persistent hyperinsulinemic hvpoglycemia of infancy
    • IR6.2 also leads to familial persistent hyperinsulinemic hvpoglycemia of infancy. Hum Mol Genet 1996;5:1809-12.
    • (1996) Hum Mol Genet , vol.5 , pp. 1809-1812
    • Thomas, P.1    Ye, Y.2    Lightner, E.3
  • 25
  • 27
    • 0029756638 scopus 로고    scopus 로고
    • Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia on infancy
    • 27 Thomas PM, Wohllk N, Huang E, et al. Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia on infancy. Am J Hum Genet 1996;59:510-8.
    • (1996) Am J Hum Genet , vol.59 , pp. 510-518
    • Thomas, P.M.1    Wohllk, N.2    Huang, E.3
  • 28
    • 0029658241 scopus 로고    scopus 로고
    • Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
    • 28 Nestorowicz A, Wilson BA, Schoor KP, et al. Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 1996;5:1813-22.
    • (1996) Hum Mol Genet , vol.5 , pp. 1813-1822
    • Nestorowicz, A.1    Wilson, B.A.2    Schoor, K.P.3
  • 29
    • 0031802399 scopus 로고    scopus 로고
    • Genetic heterogeneity in familial hyperinsulinism
    • 29 Nestorowicz A, Glaser B, Wilson BA, et al. Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet 1998;7:1119-28.
    • (1998) Hum Mol Genet , vol.7 , pp. 1119-1128
    • Nestorowicz, A.1    Glaser, B.2    Wilson, B.A.3
  • 31
    • 0030016913 scopus 로고    scopus 로고
    • Adenosine diphosphate as an intracellular regulator of insulin secretion
    • 31 Nichols CG, Shyng S-L, Nestorowicz A, et al. Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 1996;272:1785-7.
    • (1996) Science , vol.272 , pp. 1785-1787
    • Nichols, C.G.1    Shyng, S.-L.2    Nestorowicz, A.3
  • 32
    • 0031799545 scopus 로고    scopus 로고
    • Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy
    • 32 Shyng SL, Ferrigni T, Shepard JB; et al. Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 1998;47:1145-51.
    • (1998) Diabetes , vol.47 , pp. 1145-1151
    • Shyng, S.L.1    Ferrigni, T.2    Shepard, J.B.3
  • 35
    • 0030671407 scopus 로고    scopus 로고
    • Abnormalities of pancreatc islets by targeted expression of a dominant-negative Katp channel
    • 35 Miki T, Tashiro F, Iwanaga T, et al. Abnormalities of pancreatc islets by targeted expression of a dominant-negative Katp channel. Proc Natl Acad Sci U S A 1997;94:1 1969-73.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 11969-11973
    • Miki, T.1    Tashiro, F.2    Iwanaga, T.3
  • 36
    • 0029808377 scopus 로고    scopus 로고
    • Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia
    • 36 Zammarchi E, Filippi L, Novembre E, Donati MA. Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism 1996;45:957-60.
    • (1996) Metabolism , vol.45 , pp. 957-960
    • Zammarchi, E.1    Filippi, L.2    Novembre, E.3    Donati, M.A.4
  • 38
    • 0032493123 scopus 로고    scopus 로고
    • Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
    • 38 Stanley CA, Lieu YK, Hsu BY, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998;338:1352-7.
    • (1998) N Engl J Med , vol.338 , pp. 1352-1357
    • Stanley, C.A.1    Lieu, Y.K.2    Hsu, B.Y.3
  • 39
    • 0032556969 scopus 로고    scopus 로고
    • Familial hyperinsulinism caused by an activating glucokinase mutation
    • 39 Glaser B, Kesavan P, Heyman M, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998;338:226-30.
    • (1998) N Engl J Med , vol.338 , pp. 226-230
    • Glaser, B.1    Kesavan, P.2    Heyman, M.3
  • 40
    • 0025271855 scopus 로고
    • A glucose reduction challenge in the differential diagnosis of fasting hypoglycemia: A two-center study
    • 40 Ipp E, Sinai Y, Forster B, et al. A glucose reduction challenge in the differential diagnosis of fasting hypoglycemia: a two-center study. J Clin Endocrinol Metab 1990;70:711-17.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 711-717
    • Ipp, E.1    Sinai, Y.2    Forster, B.3
  • 41
    • 0027375645 scopus 로고
    • Persistent hyperinsulinemic hypoglycemia of infancy: Long-term octreotide treatment without pancreatectomy
    • 41 Glaser B, Hirsch HJ, Landau H. Persistent hyperinsulinemic hypoglycemia of infancy: long-term octreotide treatment without pancreatectomy. J Pediatr 1993;123:644-50.
    • (1993) J Pediatr , vol.123 , pp. 644-650
    • Glaser, B.1    Hirsch, H.J.2    Landau, H.3
  • 42
    • 0032992651 scopus 로고    scopus 로고
    • Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism
    • 42 Glaser B, Furth J, Stanley CA, et al. Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. Hum Mutat 1999;14:23-9.
    • (1999) Hum Mutat , vol.14 , pp. 23-29
    • Glaser, B.1    Furth, J.2    Stanley, C.A.3
  • 43
    • 0029795093 scopus 로고    scopus 로고
    • Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • 43 Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB. Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency [see comments], J Clin Endocrinol Metab 1996;81:4081-8.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4081-4088
    • Witchel, S.F.1    Bhamidipati, D.K.2    Hoffman, E.P.3    Cohen, J.B.4
  • 44
    • 0024339361 scopus 로고
    • Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia
    • 44 Goossens A, Gepts W, Saudubray JM, et al. Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol 1989;13:766-75.
    • (1989) Am J Surg Pathol , vol.13 , pp. 766-775
    • Goossens, A.1    Gepts, W.2    Saudubray, J.M.3
  • 45
    • 0030880778 scopus 로고    scopus 로고
    • Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy
    • 45 de Lonlay P, Fournet JC, Rahier J, et al. 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;100:802-7.
    • (1997) J Clin Invest , vol.100 , pp. 802-807
    • De Lonlay, P.1    Fournet, J.C.2    Rahier, J.3
  • 47
    • 0031765251 scopus 로고    scopus 로고
    • Hyperinsulinism: The molecular aetiology of focal disease
    • 47 Ryan FD, Devaney D, Joyce C, et al. Hyperinsulinism: the molecular aetiology of focal disease. Arch Dis Child 1998;79:445-7.
    • (1998) Arch Dis Child , vol.79 , pp. 445-447
    • Ryan, F.D.1    Devaney, D.2    Joyce, C.3
  • 48
    • 0032190017 scopus 로고    scopus 로고
    • Paternal mutation of the sulfonylurea receptor (SURI) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
    • 48 Verkarre V, Fournet JC, de Lonlay P, et al. Paternal mutation of the sulfonylurea receptor (SURI) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 1998;102:1286-91.
    • (1998) J Clin Invest , vol.102 , pp. 1286-1291
    • Verkarre, V.1    Fournet, J.C.2    De Lonlay, P.3
  • 49
    • 0032790274 scopus 로고    scopus 로고
    • Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea receptor gene
    • 49 Glaser B, Ryan F, Donath M, et al. Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea receptor gene. Diabetes 1999;48:1652-7.
    • (1999) Diabetes , vol.48 , pp. 1652-1657
    • Glaser, B.1    Ryan, F.2    Donath, M.3
  • 50
    • 0028813928 scopus 로고
    • Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: Incidence of diabetes mellitus and persistent β-cell dysfunction at long-term follow-up
    • 50 Leibowitz G, Glaser B, Higazi AA, Salameh M; Cerasi E, Landau H. Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: incidence of diabetes mellitus and persistent β-cell dysfunction at long-term follow-up. J Clin Endocrinol Metab 1995;80:386-92.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 386-392
    • Leibowitz, G.1    Glaser, B.2    Higazi, A.A.3    Salameh, M.4    Cerasi, E.5    Landau, H.6
  • 51
    • 0029098644 scopus 로고
    • Hyperinsulinism in children: Diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases
    • 51 Dubois J, Brunelle F, Touati G, et al. Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr Radiol 1995;25:512-16.
    • (1995) Pediatr Radiol , vol.25 , pp. 512-516
    • Dubois, J.1    Brunelle, F.2    Touati, G.3


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