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Assessment of Newly Proposed Clinical Criteria to Identify HNF1A MODY in Patients with an Initial Diagnosis of Type 1 or Type 2 Diabetes Mellitus


Affiliations
1 Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland
 

The most common form of maturity-onset diabetes of the young (MODY) is caused by mutations in the hepatocyte nuclear factor 1A (HNF1A) gene. However, most HNF1A mutation-carriers are initially misdiagnosed with type 1 (T1DM) or type 2 (T2DM) diabetes mellitus; hence, they often receive nonoptimal treatment. The aim of our study was to test newly proposed clinical criteria for the identification of HNF1A MODY in patients with a diagnosis of T1DM or T2DM. To achieve this, the following criteria to preselect patients for screening were used: for T1DM: TDIR (total daily insulin requirement) > 0.3 IU of insulin/kg and the percentage of basal insulin > 30% of TDIR; for T2DM: sulphonylurea- (SU-) based oral treatment (monotherapy or combined with Metform in) > 15 years and BMI < 30 kg/m2. We reviewed the clinical data of 140 patients with T1DM and 524 clinically diagnosed with T2DM. On the basis of these criteria, we found a HNF1A mutation in 1 out of 2 individuals with a diagnosis of T1DM and 1 out of 11 selected individuals with a diagnosis of T2DM.We believe that the simplicity of the proposed criteria might prove useful in clinical practice, as an alternative to more time-consuming classical diagnostic techniques.
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  • Assessment of Newly Proposed Clinical Criteria to Identify HNF1A MODY in Patients with an Initial Diagnosis of Type 1 or Type 2 Diabetes Mellitus

Abstract Views: 74  |  PDF Views: 3

Authors

Malgorzata Grzanka
Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland
Bartlomiej Matejko
Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland
Magdalena Szopa
Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland
Beata Kiec-Wilk
Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland
Maciej T. Malecki
Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland
Tomasz Klupa
Department of Metabolic Diseases, Jagiellonian University Medical College, Jagiellonian University, 15 Kopernika Street, 31-501 Krakow, Poland

Abstract


The most common form of maturity-onset diabetes of the young (MODY) is caused by mutations in the hepatocyte nuclear factor 1A (HNF1A) gene. However, most HNF1A mutation-carriers are initially misdiagnosed with type 1 (T1DM) or type 2 (T2DM) diabetes mellitus; hence, they often receive nonoptimal treatment. The aim of our study was to test newly proposed clinical criteria for the identification of HNF1A MODY in patients with a diagnosis of T1DM or T2DM. To achieve this, the following criteria to preselect patients for screening were used: for T1DM: TDIR (total daily insulin requirement) > 0.3 IU of insulin/kg and the percentage of basal insulin > 30% of TDIR; for T2DM: sulphonylurea- (SU-) based oral treatment (monotherapy or combined with Metform in) > 15 years and BMI < 30 kg/m2. We reviewed the clinical data of 140 patients with T1DM and 524 clinically diagnosed with T2DM. On the basis of these criteria, we found a HNF1A mutation in 1 out of 2 individuals with a diagnosis of T1DM and 1 out of 11 selected individuals with a diagnosis of T2DM.We believe that the simplicity of the proposed criteria might prove useful in clinical practice, as an alternative to more time-consuming classical diagnostic techniques.