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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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.
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Mutational analyses are established for classification of diabetes in the neonate as well as in young individuals with a dominant family history of diabetes (MODY).
“However, an exception is the mutational analyses established for classification of diabetes in the neonate (381-384) as well as in young individuals with a dominant family history of diabetes, often referred to as maturityonset diabetes of the young (MODY) (384,385) (Table 8).”
From Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus (2023) · cites this paper as [384]
At diagnosis of diabetes in children, absence of all four islet autoantibodies and modest hyperglycemia (HbA1c <7.5% [58 mmol/mol]) proved useful for the detection of MODY.
“At diagnosis of diabetes in children, absence of all four islet autoantibodies and modest hyperglycemia (HbA 1c <7.5% [58 mmol/mol]) proved useful for the detection of MODY (384).”
From Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus (2023) · cites this paper as [384]
Infants with neonatal diabetes due to a mutation in the KCNJ11 (Kir6.2) gene may be treated with a sulfonylurea rather than with insulin.
“For example, infants with neonatal diabetes due to a mutation in the KCNJ11 (Kir6.2) gene may be treated with a sulfonylurea rather than with insulin (382,384,398).”
From Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus (2023) · cites this paper as [384]
The Introduction and Results discuss sulphonylurea treatment for HNF1A and HNF4A MODY, not KCNJ11-related neonatal diabetes. Searches for KCNJ11/Kir6.2 and neonatal diabetes found no passage in our copy addressing whether affected infants can use a sulfonylurea instead of insulin. (LLM, conf=0.77)
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- Authors
- Carlsson, A., Shepherd, M., Ellard, S., Weedon, M., Lernmark, Å., Forsander, G., Colclough, K., Brahimi, Q., Valtonen-Andre, C., Ivarsson, S. A., Elding Larsson, H., Samuelsson, U., Örtqvist, E., Groop, L., Ludvigsson, J., Marcus, C., & Hattersley, A. T.
- Affiliations
- Lund University (SE)
- University of Exeter (GB)
- Sahlgrenska University Hospital (SE)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Department of Clinical Chemistry, University and Regional Laboratories Region Skåne, Malmö, Sweden
- Department of Clinical Sciences, Lund University/Clinical Research Centre, Skåne University Hospital, Malmö, Sweden
- Linköping University (SE)
- Karolinska Institutet (SE)
- University of Helsinki (FI)
- Corresponding author
- Marcus, Claude
- Hattersley, Andrew T.
- ORCID
- Venue
- Diabetes Care
- Publisher
- American Diabetes Association
- Published
- 2019-12-12
- Volume
- 43
- Issue
- 1
- Pages
- 82-89
- ISSN
- 0149-5992 (ISSN-L)
- 1935-5548
- PMC
- PMC6925576
- OpenAlex
- W2986370305
- Semantic Scholar
- 260c6b73f017acb71ca2367e4608123c11a79817
- Cited by
- 111
- References
- 34
- Citations by year
- 2026: 11 · 2025: 14 · 2024: 16 · 2023: 19 · 2022: 24 · 2021: 15 · 2020: 12
- FWCI
- 7.68
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Diabetes Care (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Open Research Exeter (University of Exeter) (acceptedVersion)
- Figshare (submittedVersion)
- Työväentutkimus Vuosikirja (submittedVersion, other-oa)
- Lund University Publications (Lund University) (submittedVersion)
- Royal Devon and Exeter Research Repository (Royal Devon and Exeter) (submittedVersion)
- Funders
- Royal Devon and Exeter NHS Foundation Trust
- Wellcome Trust (098395/Z/12/Z)
- National Institute for Health and Care Research (NF-SI-0611-10219, NF-SI-0616-10080)
- Lunds Universitet
- Linköpings Universitet
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (UC4DK063861, U01DK063861)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes Management and Research
- Keywords
- maturity-onset diabetes of the young, pediatric diabetes, islet autoantibodies, glucokinase, HNF1A, HNF4α, diabetes misdiagnosis, HbA1c, plasma glucose, glycemic control, genetic testing, parental diabetes, diabetic ketoacidosis, C-peptide
- MeSH terms
- Adolescent, Autoantibodies, Blood Glucose, Child, Child, Preschool, Diabetes Mellitus, Type 2, Diagnosis, Differential, Female, Humans, Hyperglycemia, Infant, Islets of Langerhans, Male, Sweden, Cohort Studies, Prevalence
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