ArticlePediatric diabetes2015
Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes.
Article in Pediatric diabetes, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- The interplay of maturity-onset diabetes of the young, obesity, uncontrolled hypertension, and cannabinoid hyperemesis in the progression to end-stage renal disease: a case report.Frontiers in medicine · 2026Article
- Recent advances in N-glycan biomarker discovery among human diseases.Acta biochimica et biophysica Sinica · 2024Review
- Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.Life (Basel, Switzerland) · 2023Article
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- Urinary bladder wall thickness in type 2 diabetes mellitus patients.Journal of ultrasonography · 2022Article
- NovelWorld journal of clinical cases · 2022Article
- Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation.Frontiers in endocrinology · 2022Article
- Update on clinical screening of maturity-onset diabetes of the young (MODY).Diabetology & metabolic syndrome · 2020Review
- Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.Diabetic medicine : a journal of the British Diabetic Association · 2019Article
- Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?PloS one · 2019Article
- Article
- Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?Diabetes technology & therapeutics · 2018Article
- Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.Diabetes care · 2017Article
- Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.Diabetes care · 2016Article
- Characteristics of maturity onset diabetes of the young in a large diabetes center.Pediatric diabetes · 2016Article
- Assessment of Newly Proposed Clinical Criteria to Identify HNF1A MODY in Patients with an Initial Diagnosis of Type 1 or Type 2 Diabetes Mellitus.Advances in medicine · 2016Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveMonogenic diabetes (MD) is rare and can often be confused with type 1 diabetes (T1D) in a pediatric cohort. We sought to determine clinical criteria that could optimally identify candidates for genetic testing of two common forms of MD that alter therapy: glucokinase (GCK) and hepatocyte nuclear factor 1 alpha (HNF1α). RESEARCH DESIGN AND
methodsWe performed a retrospective chart review of 939 patients with a presumed diagnosis of T1D, 6 months-20 yr of age, and identified four clinical criteria that were unusual for T1D and could warrant further evaluation for MD: (i) negative pancreatic autoantibodies, (ii) evidence of prolonged endogenous insulin production, or (iii) strong family history of diabetes in multiple generations. One hundred and twenty-one patients were identified as having one or more of these high-risk clinical criteria and were offered screening for mutations in GCK and HNF1α; 58 consented for genetic testing.
resultsOf 58 patients with presumed T1D who underwent genetic testing, four were found to have GCK and one had HNF1α. No patients with only one high-risk feature were found to have MD. Of 10 patients who had two or more high risk criteria, five had MD (50%).
conclusionA high frequency of MD from mutations in GCK/HNF1α may be identified among pediatric diabetic patients originally considered to have T1D by performing genetic testing on those patients with multiple clinical risk factors for MD.
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