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 Metformin) > 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.
Highlights
The most common form of maturity-onset diabetes of the young (MODY) is caused by mutations in the hepatocyte nuclear factor 1A (HNF1A) gene [1, 2]
To establish the clinical criteria for preselecting individuals diagnosed with T1DM for HNF1A molecular testing, we performed a retrospective analysis of patients with an established HNF1A MODY diagnosis (131 patients, 46 males and 85 females)
Analysis of the clinical data of 40 HNF1A mutation-carriers, who had been treated as T1DM before MODY diagnosis, showed that, on average, their total daily insulin dose was 0.28 j/kg ± 0.11 j
Summary
The most common form of maturity-onset diabetes of the young (MODY) is caused by mutations in the hepatocyte nuclear factor 1A (HNF1A) gene [1, 2]. It is well established that patients with HNF1A MODY are very sensitive to sulphonylureas (SU) and can be taken off insulin treatment after the proper molecular diagnosis [1, 2]. The effective selection of “T1DM” and “T2DM” patients for molecular testing for the HNF1A MODY mutation does present some challenges. It is usually based on clinical criteria suggested by Ellard et al [2]. For HNF1A MODY they include young-onset diabetes, being non-insulin-dependent outside the normal honeymoon period, family history of diabetes, the absence of pancreatic islet autoantibodies, glycosuria at blood glucose levels
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