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Volumn 14, Issue 3, 2013, Pages 174-180

Permanent neonatal diabetes mellitus: Prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study

Author keywords

ABCC8; Infant; INS; KCNJ11; Neonatal diabetes

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL;

EID: 84876795114     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/pedi.12003     Document Type: Article
Times cited : (58)

References (27)
  • 1
    • 43549102666 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus
    • Aguilar-Bryan L, Bryan J. Neonatal diabetes mellitus. Endocr Rev 2008: 29: 265-291.
    • (2008) Endocr Rev , vol.29 , pp. 265-291
    • Aguilar-Bryan, L.1    Bryan, J.2
  • 2
    • 34247880183 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus: a disease linked to multiple mechanisms
    • Polak M, Cave H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007: 2: 12.
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 12
    • Polak, M.1    Cave, H.2
  • 3
    • 84874430012 scopus 로고    scopus 로고
    • Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
    • Epub ahead of print
    • Iafusco D, Massa O, Pasquino B et al. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90, 000 live births. Acta Diabetol 2011 [Epub ahead of print].
    • (2011) Acta Diabetol
    • Iafusco, D.1    Massa, O.2    Pasquino, B.3
  • 4
    • 33646513278 scopus 로고    scopus 로고
    • Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6months of life, with the phenotype determined by genotype
    • Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6months of life, with the phenotype determined by genotype. Diabetologia 2006: 49: 1190-1197.
    • (2006) Diabetologia , vol.49 , pp. 1190-1197
    • Flanagan, S.E.1    Edghill, E.L.2    Gloyn, A.L.3    Ellard, S.4    Hattersley, A.T.5
  • 5
    • 33748333167 scopus 로고    scopus 로고
    • HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6months
    • Edghill EL, Dix RJ, Flanagan SE et al. HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6months. Diabetes 2006: 55: 1895-1898.
    • (2006) Diabetes , vol.55 , pp. 1895-1898
    • Edghill, E.L.1    Dix, R.J.2    Flanagan, S.E.3
  • 6
    • 3042637568 scopus 로고    scopus 로고
    • Permanent diabetes mellitus in the first year of life
    • Iafusco D, Stazi MA, Cotichini R et al. Permanent diabetes mellitus in the first year of life. Diabetologia 2002: 45: 798-804.
    • (2002) Diabetologia , vol.45 , pp. 798-804
    • Iafusco, D.1    Stazi, M.A.2    Cotichini, R.3
  • 7
    • 20344380957 scopus 로고    scopus 로고
    • Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment
    • Slingerland AS, Hattersley AT. Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment. Ann Med 2005: 37: 186-195.
    • (2005) Ann Med , vol.37 , pp. 186-195
    • Slingerland, A.S.1    Hattersley, A.T.2
  • 8
    • 2342633204 scopus 로고    scopus 로고
    • Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    • Gloyn AL, Pearson ER, Antcliff JF et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004: 350: 1838-1849.
    • (2004) N Engl J Med , vol.350 , pp. 1838-1849
    • Gloyn, A.L.1    Pearson, E.R.2    Antcliff, J.F.3
  • 9
    • 33746778878 scopus 로고    scopus 로고
    • Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
    • Babenko AP, Polak M, Cave H et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006: 355: 456-466.
    • (2006) N Engl J Med , vol.355 , pp. 456-466
    • Babenko, A.P.1    Polak, M.2    Cave, H.3
  • 10
    • 42449134450 scopus 로고    scopus 로고
    • Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
    • Edghill EL, Flanagan SE, Patch AM et al. Insulin mutation screening in 1, 044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008: 57: 1034-1042.
    • (2008) Diabetes , vol.57 , pp. 1034-1042
    • Edghill, E.L.1    Flanagan, S.E.2    Patch, A.M.3
  • 11
    • 41149084500 scopus 로고    scopus 로고
    • Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
    • Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008: 4: 200-213.
    • (2008) Nat Clin Pract Endocrinol Metab , vol.4 , pp. 200-213
    • Murphy, R.1    Ellard, S.2    Hattersley, A.T.3
  • 12
    • 0242384237 scopus 로고    scopus 로고
    • Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy
    • Gloyn AL. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 2003: 22: 353-362.
    • (2003) Hum Mutat , vol.22 , pp. 353-362
    • Gloyn, A.L.1
  • 13
    • 33746686369 scopus 로고    scopus 로고
    • Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
    • Pearson ER, Flechtner I, Njolstad PR et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006: 355: 467-477.
    • (2006) N Engl J Med , vol.355 , pp. 467-477
    • Pearson, E.R.1    Flechtner, I.2    Njolstad, P.R.3
  • 14
    • 38949177444 scopus 로고    scopus 로고
    • Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
    • Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care 2008: 31: 204-209.
    • (2008) Diabetes Care , vol.31 , pp. 204-209
    • Rafiq, M.1    Flanagan, S.E.2    Patch, A.M.3    Shields, B.M.4    Ellard, S.5    Hattersley, A.T.6
  • 15
    • 33745288813 scopus 로고    scopus 로고
    • KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
    • Gloyn AL, Diatloff-Zito C, Edghill EL et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet 2006: 14: 824-830.
    • (2006) Eur J Hum Genet , vol.14 , pp. 824-830
    • Gloyn, A.L.1    Diatloff-Zito, C.2    Edghill, E.L.3
  • 16
    • 40849139200 scopus 로고    scopus 로고
    • The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy
    • Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F. The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J Clin Endocrinol Metab 2008: 93: 1054-1061.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 1054-1061
    • Koster, J.C.1    Cadario, F.2    Peruzzi, C.3    Colombo, C.4    Nichols, C.G.5    Barbetti, F.6
  • 17
    • 33847363327 scopus 로고    scopus 로고
    • Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene
    • Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia 2006: 49: 2559-2563.
    • (2006) Diabetologia , vol.49 , pp. 2559-2563
    • Slingerland, A.S.1    Nuboer, R.2    Hadders-Algra, M.3    Hattersley, A.T.4    Bruining, G.J.5
  • 18
    • 4644295056 scopus 로고    scopus 로고
    • SEARCH for Diabetes in Youth: a multicenter study of the prevalence, incidence and classification of diabetes mellitus in youth
    • SEARCH Study Group.
    • SEARCH Study Group. SEARCH for Diabetes in Youth: a multicenter study of the prevalence, incidence and classification of diabetes mellitus in youth. Control Clin Trials 2004: 25: 458-471.
    • (2004) Control Clin Trials , vol.25 , pp. 458-471
  • 19
    • 33750107067 scopus 로고    scopus 로고
    • The burden of diabetes mellitus among US youth: prevalence estimates from the SEARCH for Diabetes in Youth Study
    • Liese AD, D'Agostino RB Jr, Hamman RF et al. The burden of diabetes mellitus among US youth: prevalence estimates from the SEARCH for Diabetes in Youth Study. Pediatrics 2006: 118: 1510-1518.
    • (2006) Pediatrics , vol.118 , pp. 1510-1518
    • Liese, A.D.1    D'Agostino Jr, R.B.2    Hamman, R.F.3
  • 20
    • 34347255769 scopus 로고    scopus 로고
    • Incidence of diabetes in youth in the United States
    • Dabelea D, Bell RA, D'Agostino RB Jr et al. Incidence of diabetes in youth in the United States. JAMA 2007: 297: 2716-2724.
    • (2007) JAMA , vol.297 , pp. 2716-2724
    • Dabelea, D.1    Bell, R.A.2    D'Agostino Jr, R.B.3
  • 21
    • 77954949830 scopus 로고    scopus 로고
    • Harmonization of glutamic acid decarboxylase and islet antigen-2 autoantibody assays for national institute of diabetes and digestive and kidney diseases consortia
    • Bonifacio E, Yu L, Williams AK et al. Harmonization of glutamic acid decarboxylase and islet antigen-2 autoantibody assays for national institute of diabetes and digestive and kidney diseases consortia. J Clin Endocrinol Metab 2010: 95: 3360-3367.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 3360-3367
    • Bonifacio, E.1    Yu, L.2    Williams, A.K.3
  • 22
    • 59749094454 scopus 로고    scopus 로고
    • Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism
    • Flanagan SE, Clauin S, Bellanne-Chantelot C et al. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2009: 30: 170-180.
    • (2009) Hum Mutat , vol.30 , pp. 170-180
    • Flanagan, S.E.1    Clauin, S.2    Bellanne-Chantelot, C.3
  • 23
    • 0024560413 scopus 로고
    • A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles
    • Sheehy MJ, Scharf SJ, Rowe JR et al. A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles. J Clin Invest 1989: 83: 830-835.
    • (1989) J Clin Invest , vol.83 , pp. 830-835
    • Sheehy, M.J.1    Scharf, S.J.2    Rowe, J.R.3
  • 24
    • 67650658777 scopus 로고    scopus 로고
    • Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births
    • Slingerland AS, Shields BM, Flanagan SE et al. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260, 000 live births. Diabetologia 2009: 52: 1683-1685.
    • (2009) Diabetologia , vol.52 , pp. 1683-1685
    • Slingerland, A.S.1    Shields, B.M.2    Flanagan, S.E.3
  • 25
    • 34147167267 scopus 로고    scopus 로고
    • Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers
    • Stanik J, Gasperikova D, Paskova M et al. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab 2007: 92: 1276-1282.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 1276-1282
    • Stanik, J.1    Gasperikova, D.2    Paskova, M.3
  • 26
    • 79959716801 scopus 로고    scopus 로고
    • Permanent diabetes during the first year of life: multiple gene screening in 54 patients
    • Russo L, Iafusco D, Brescianini S et al. Permanent diabetes during the first year of life: multiple gene screening in 54 patients. Diabetologia 2011: 54: 1693-1701.
    • (2011) Diabetologia , vol.54 , pp. 1693-1701
    • Russo, L.1    Iafusco, D.2    Brescianini, S.3
  • 27
    • 52649099443 scopus 로고    scopus 로고
    • Diagnosis and treatment of neonatal diabetes: a United States experience
    • Stoy J, Greeley SA, Paz VP et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 2008: 9: 450-459.
    • (2008) Pediatr Diabetes , vol.9 , pp. 450-459
    • Stoy, J.1    Greeley, S.A.2    Paz, V.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.