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Absence of Islet Au...
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY : Lessons From a 5-Year Pediatric Swedish National Cohort Study
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- Carlsson, Annelie (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrisk autoimmunitet,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Pediatric Autoimmunity,Lund University Research Groups,Skåne University Hospital,Celiaki och diabetes,Celiac Disease and Diabetes Unit,Lund Univ, Sweden
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- Shepherd, Maggie (author)
- Univ Exeter, England,University of Exeter
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- Ellard, Sian (author)
- Univ Exeter, England; Royal Devon and Exeter NHS Fdn Trust, England,Royal Devon and Exeter NHS Foundation Trust
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- Weedon, Michael (author)
- Univ Exeter, England,University of Exeter
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- Lernmark, Åke (author)
- Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden
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- Forsander, Gun, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences
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- Colclough, Kevin (author)
- Royal Devon and Exeter NHS Fdn Trust, England,Royal Devon and Exeter NHS Foundation Trust
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- Brahimi, Qefsere (author)
- Lund University,Lunds universitet,Pediatrisk autoimmunitet,Forskargrupper vid Lunds universitet,Pediatric Autoimmunity,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden
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- Valtonen-Andre, Camilla (author)
- Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups,Region Skåne,Univ and Reg Labs Reg, Sweden
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- Ivarsson, Sten A. (author)
- Lund Univ, Sweden
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- Elding Larsson, Helena (author)
- Lund University,Lunds universitet,Pediatrisk endokrinologi,Forskargrupper vid Lunds universitet,Paediatric Endocrinology,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden
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- Samuelsson, Ulf, 1951- (author)
- Linköping University,Linköpings universitet,Avdelningen för barns och kvinnors hälsa,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus
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- Ortqvist, Eva (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden
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- Groop, Leif (author)
- Univ Helsinki, Finland,Institute for Molecular Medicine Finland (FIMM)
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- Ludvigsson, Johnny, 1943- (author)
- Linköping University,Linköpings universitet,Avdelningen för barns och kvinnors hälsa,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus
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- Marcus, Claude (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden
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- Hattersley, Andrew T. (author)
- Univ Exeter, England,University of Exeter
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(creator_code:org_t)
- 2019-12-12
- 2020
- English.
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In: Diabetes Care. - Arlington, VA, United States : American Diabetes Association. - 0149-5992 .- 1935-5548. ; 43:1, s. 82-89
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Abstract
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- OBJECTIVE Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory clinical features at diabetes diagnosis of patients with glucokinase (GCK), hepatocyte nuclear factor-1A (HNF1A), and HNF4A MODY in the pediatric population.RESEARCH DESIGN AND METHODS Swedish patients (n = 3,933) aged 1–18 years, diagnosed with diabetes May 2005 to December 2010, were recruited from the national consecutive prospective cohort Better Diabetes Diagnosis. Clinical data, islet autoantibodies (GAD insulinoma antigen-2, zinc transporter 8, and insulin autoantibodies), HLA type, and C-peptide were collected at diagnosis. MODY was identified by sequencing GCK, HNF1A, and HNF4A, through either routine clinical or research testing.RESULTS The minimal prevalence of MODY was 1.2%. Discriminatory factors for MODY at diagnosis included four islet autoantibody negativity (100% vs. 11% not-known MODY; P = 2 × 10−44), HbA1c (7.0% vs. 10.7% [53 vs. 93 mmol/mol]; P = 1 × 10−20), plasma glucose (11.7 vs. 26.7 mmol/L; P = 3 × 10−19), parental diabetes (63% vs. 12%; P = 1 × 10−15), and diabetic ketoacidosis (0% vs. 15%; P = 0.001). Testing 303 autoantibody-negative patients identified 46 patients with MODY (detection rate 15%). Limiting testing to the 73 islet autoantibody-negative patients with HbA1c <7.5% (58 mmol/mol) at diagnosis identified 36 out of 46 (78%) patients with MODY (detection rate 49%). On follow-up, the 46 patients with MODY had excellent glycemic control, with an HbA1c of 6.4% (47 mmol/mol), with 42 out of 46 (91%) patients not on insulin treatment.CONCLUSIONS At diagnosis of pediatric diabetes, absence of all islet autoantibodies and modest hyperglycemia (HbA1c <7.5% [58 mmol/mol]) should result in testing for GCK, HNF1A, and HNF4A MODY. Testing all 12% patients negative for four islet autoantibodies is an effective strategy for not missing MODY but will result in a lower detection rate. Identifying MODY results in excellent long-term glycemic control without insulin.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Carlsson, Anneli ...
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Shepherd, Maggie
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Ellard, Sian
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Weedon, Michael
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Lernmark, Åke
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Forsander, Gun, ...
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show more...
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Colclough, Kevin
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Brahimi, Qefsere
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Valtonen-Andre, ...
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Ivarsson, Sten A ...
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Elding Larsson, ...
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Samuelsson, Ulf, ...
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Ortqvist, Eva
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Groop, Leif
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Ludvigsson, John ...
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Marcus, Claude
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Hattersley, Andr ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Diabetes Care
- By the university
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Linköping University
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Lund University
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Karolinska Institutet
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University of Gothenburg