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

被引：120

作者：

Slingerland, A. S. ^{[1
,2
,3
]}

Shields, B. M. ^{[1
]}

Flanagan, S. E. ^{[1
]}

Bruining, G. J. ^{[4
]}

Noordam, K. ^{[5
]}

Gach, A. ^{[6
]}

Mlynarski, W. ^{[6
]}

Malecki, M. T. ^{[7
]}

Hattersley, A. T. ^{[1
]}

Ellard, S. ^{[1
]}

机构：

[1] Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

[2] Leiden Univ, Med Ctr, Dept Cardiol, Leiden, Netherlands

[3] Care Cure Sci Fdn, Amsterdam, Netherlands

[4] Maxima Med Ctr, Dept Paediat, Veldhoven, Netherlands

[5] Radboud Univ Nijmegen, Med Ctr, Dept Paediat, Nijmegen, Netherlands

[6] Med Univ Lodz, Dept Paediat, Inst Paediat 1, Lodz, Poland

[7] Jagiellonian Univ, Coll Med, Dept Metab Dis, Krakow, Poland

来源：

DIABETOLOGIA | 2009年 / 52卷 / 08期

关键词：

Genetic testing; Incidence; Monogenic diabetes; Neonatal diabetes; PNDM; ORAL SULFONYLUREAS; MUTATIONS; KIR6.2; INSULIN; KCNJ11;

D O I：

10.1007/s00125-009-1416-6

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

引用

页码：1683 / 1685

页数：3

共 9 条

[1]

Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman [J].

Bappal, B ;

Raghupathy, P ;

de Silva, V ;

Al Khusaiby, SM .

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 1999, 80 (03) :F209-F212

[2]

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months [J].

Edghill, Emma L. ;

Dix, Rachel J. ;

Flanagan, Sarah E. ;

Bingley, Polly J. ;

Hattersley, Andrew T. ;

Ellard, Sian ;

Gillespie, Kathleen M. .

DIABETES, 2006, 55 (06) :1895-1898

[3]

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype [J].

Flanagan, SE ;

Edghill, EL ;

Gloyn, AL ;

Ellard, S ;

Hattersley, AT .

DIABETOLOGIA, 2006, 49 (06) :1190-1197

[4]

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes [J].

Gloyn, AL ;

Pearson, ER ;

Antcliff, JF ;

Proks, P ;

Bruining, GJ ;

Slingerland, AS ;

Howard, N ;

Srinivasan, S ;

Silva, JMCL ;

Molnes, J ;

Edghill, EL ;

Frayling, TM ;

Temple, IK ;

Mackay, D ;

Shield, JPH ;

Sumnik, Z ;

van Rhijn, A ;

Wales, JKH ;

Clark, P ;

Gorman, S ;

Aisenberg, J ;

Ellard, S ;

Njolstad, PR ;

Ashcroft, FM ;

Hattersley, AT .

NEW ENGLAND JOURNAL OF MEDICINE, 2004, 350 (18) :1838-1849

[5]

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations [J].

Pearson, Ewan R. ;

Flechtner, Isabelle ;

Njolstad, Pal R. ;

Malecki, Maciej T. ;

Flanagan, Sarah E. ;

Larkin, Brian ;

Ashcroft, Frances M. ;

Klimes, Iwar ;

Codner, Ethel ;

Iotova, Violeta ;

Slingerland, Annabelle S. ;

Shield, Julian ;

Robert, Jean-Jacques ;

Holst, Jens J. ;

Clark, Penny M. ;

Ellard, Sian ;

Sovik, Oddmund ;

Polak, Michel ;

Hattersley, Andrew T. .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (05) :467-477

[6]

Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations [J].

Rafiq, Meena ;

Flanagan, Sarah E. ;

Patch, Ann-Marie ;

Shields, Beverley M. ;

Ellard, Sian ;

Hattersley, Andrew T. .

DIABETES CARE, 2008, 31 (02) :204-209

[7]

Aetiopathology and genetic basis of neonatal diabetes [J].

Shield, JPH ;

Gardner, RJ ;

Wadsworth, EJK ;

Whiteford, ML ;

James, RS ;

Robinson, DO ;

Baum, JD ;

Temple, IK .

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 1997, 76 (01) :F39-F42

[8]

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers [J].

Stanik, Juraj ;

Gasperikova, Daniela ;

Paskova, Magdalena ;

Barak, Lubomir ;

Javorkova, Jana ;

Jancova, Emilia ;

Ciljakova, Miriam ;

Hlava, Peter ;

Michalek, Jozef ;

Flanagan, Sarah E. ;

Pearson, Ewan ;

Hattersley, Andrew T. ;

Ellard, Sian ;

Klimes, Iwar .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (04) :1276-1282

[9]

LONG-TERM COURSE OF NEONATAL DIABETES [J].

VONMUHLENDAHL, E ;

HERKENHOFF, H .

NEW ENGLAND JOURNAL OF MEDICINE, 1995, 333 (11) :704-708

← 1 →