Abstract
PurposeTo investigate the utility of biomarkers of maturity-onset diabetes of the young (MODY), high-sensitivity C-reactive protein (hsCRP), and 1,5-anhydroglucitol (1,5-AG) in conjunction with other clinical and laboratory features to improve diagnostic accuracy and provide a diagnostic algorithm for HNF1A MODY.MethodsWe examined 77 patients with HNF1A MODY, 88 with GCK MODY mutations, 99 with type 1 diabetes, and 92 with type 2 diabetes. In addition to 1,5-AG and hsCRP, we considered body mass index (BMI), fasting glucose, and fasting serum C-peptide as potential biomarkers. Logistic regression and receiver operating characteristic curves were used in marker evaluation.ResultsConcentration of hsCRP was lowest in HNF1A MODY (0.51 mg/l) and highest in type 2 diabetes (1.33 mg/l). The level of 1,5-AG was lowest in type 1 diabetes and HNF1A MODY, 3.8 and 4.7 μg/ml, respectively, and highest (11.2 μg/ml) in GCK MODY. In the diagnostic algorithm, we first excluded patients with type 1 diabetes based on low C-peptide (C-statistic 0.98) before using high BMI and C-peptide to identify type 2 diabetes patients (C-statistic 0.92). Finally, 1,5-AG and hsCRP in conjunction yielded a C-statistic of 0.86 in discriminating HNF1A from GCK MODY. We correctly classified 92.9% of patients with type 1 diabetes, 84.8% with type 2 diabetes, 64.9% HNF1A MODY, and 52.3% GCK MODY patients.ConclusionsPlasma 1,5-AG and serum hsCRP do not discriminate sufficiently HNF1A MODY from common diabetes types, but could be potentially useful in prioritizing Sanger sequencing of HNF1A gene.
Highlights
IntroductionMedical College, Krakow, Poland 2 Department of Clinical Biochemistry, Jagiellonian University
Maturity-onset diabetes of the young (MODY) is a heterogenic group of at least 13 single gene diseasesMedical College, Krakow, Poland 2 Department of Clinical Biochemistry, Jagiellonian UniversityMedical College, Krakow, Poland 3 Sanatio Medical Center, Krakow, Poland 4 School of Medicine in English, Jagiellonian University MedicalCollege, Krakow, Poland characterized by autosomal dominant inheritance, diabetes onset in adolescents or young adults, and insulin deficiency with preserved insulin secretion [1, 2]
Our previous publication demonstrated that 1,5-AG may distinguish HNF1A MODY from type 2 diabetes within hemoglobin A1c (HbA1c) range 6.5–9.0% [8]
Summary
Medical College, Krakow, Poland 2 Department of Clinical Biochemistry, Jagiellonian University. Krakow, Poland characterized by autosomal dominant inheritance, diabetes onset in adolescents or young adults, and insulin deficiency with preserved insulin secretion [1, 2]. Their joint prevalence is estimated to be approximately between 0.5 and 2.0% of all diabetes cases in European populations [3]. No precise and uniform definition has been adopted, genetic testing is offered to patients meeting certain commonly accepted clinical criteria. An alternative to some fixed criteria is the probability calculator of MODY, which utilizes common clinical characteristics, such as family history, age, and age at diagnosis, sex, diabetes treatment regimen, body mass index (BMI), and glycated hemoglobin A1c (HbA1c) [5]
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